G36S (p.Gly36Ser) variant of ATP6V1A (P38606)
G36S (p.Gly36Ser) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G36S (p.Gly36Ser) variant details
- p.Gly36Ser
- gnomAD 3-113781073-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.88
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available