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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