Variant | Amino acid change | Polyphen-2a | SIFTb | PROVEANc | Mutation Tasterd | ACMGe | 1000Gf | gnomAD (total)g |
---|---|---|---|---|---|---|---|---|
c.2191G > C | p.E731Q | Possibly damaging (0.828) | Damaging (0.002) | Neutral (−2.02) | Disease causing (1.0) | VUS | 0 | 0 |
c.3046G > A | p.V1016M | Probably damaging (1.000) | Damaging (0.000) | Damaging (−2.91) | Disease causing (1.0) | VUS | 0 | 0 |