A35A (p.Ala35Ala) variant of ATP6V1A (P38606)
A35A (p.Ala35Ala) in ATP6V1A (P38606) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A35A (p.Ala35Ala) variant details
- p.Ala35Ala
- gnomAD 3-113781072-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.30
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available