Skip to main content

Table 1 Variant Effect Predictor analysis of missense variants in DYRK1B

From: Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum

Variant

Nucleotide change

Amino acid change

SIFTa

PolyPhen2

rs746933234

c.755G > A

p.Arg252His

Deleterious (0.02)

Probably damaging (0.996)

rs373850179

c.202A > C

p.Lys68Gln

Deleterious (0.01)

Possibly damaging (0.713)

rs34587974

c.83T > C

p.Leu28Pro

Deleterious (0.01)

Possibly damaging (0.563)

rs752428936

c.1306G > A

p.Asp436Asn

Deleterious (0.05)

Probably damaging (0.957)

rs148788670

c.1733C > T

p.Pro578Leu

Tolerated-low confidence (0.23)

Benign (0)

rs144370928

c.209G > A

p.Arg70Gln

Tolerated (0.06)

Benign (0.047)

rs771417583

c.1666A > C

p.Thr556Pro

Deleterious-low confidence (0)

Benign (0)

  1. aSIFT sorting tolerant from intolerant