P27S (p.Pro27Ser) variant of ATP6V1A (P38606)
P27S (p.Pro27Ser) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- gnomAD 3-113778832-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.81
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available