S25L (p.Ser25Leu) variant of ATP6V1A (P38606)
S25L (p.Ser25Leu) 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.
S25L (p.Ser25Leu) variant details
- p.Ser25Leu
- gnomAD 3-113778827-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.88
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available