S25P (p.Ser25Pro) variant of ATP6V1A (P38606)
S25P (p.Ser25Pro) 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.
S25P (p.Ser25Pro) variant details
- p.Ser25Pro
- gnomAD 3-113778826-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.90
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available