V43V (p.Val43Val) variant of ATP6V1A (P38606)
V43V (p.Val43Val) in ATP6V1A (P38606) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V43V (p.Val43Val) variant details
- p.Val43Val
- rs780402818
- gnomAD 3-113781096-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 13.00
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available
- Literature evidence available