Variants | Amino acid substituent | gnomAD frequency | SIFT prediction | Polyphen-2 prediction | MutationTaster prediction | CADD score | PhyloP | PhastCons |
---|---|---|---|---|---|---|---|---|
c.2054T > C | p.Val685Ala | 0 | Tolerated | Benign | Disease causing | 23.4 | 4.117 | 1 |
c.424G > A | p.Gly142Arg | 0 | Deleterious | Probably damaging | Disease causing | 26.8 | 5.161 | 1 |
c.944T > C | p.Phe315Ser | 0 | Tolerated | Benign | Disease causing | 23.9 | 4.291 | 1 |
c.115C > T | p.Arg39*† | 2/251278 | Deleterious | Benign | Disease causing | 37 | 4.014 | 1 |
c.620A > T | p.Asp207Val† | 14/282714 | Deleterious | Benign | Disease causing | 23.8 | 2.781 | 1 |