S25A (p.Ser25Ala) variant of ATP6V1A (P38606)
S25A (p.Ser25Ala) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S25A (p.Ser25Ala) variant details
- p.Ser25Ala
- gnomAD rs1708947071
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.68
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.14
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available