A62A (p.Ala62Ala) variant of ATP6V1A (P38606)
A62A (p.Ala62Ala) in ATP6V1A (P38606) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A62A (p.Ala62Ala) variant details
- p.Ala62Ala
- rs770644270
- gnomAD 3-113781153-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.92
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available