V45V (p.Val45Val) variant of ATP6V1A (P38606)
V45V (p.Val45Val) in ATP6V1A (P38606) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V45V (p.Val45Val) variant details
- p.Val45Val
- rs1708971917
- gnomAD 3-113781102-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 10.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available