V28V (p.Val28Val) variant of ATP6V1A (P38606)
V28V (p.Val28Val) in ATP6V1A (P38606) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V28V (p.Val28Val) variant details
- p.Val28Val
- gnomAD 3-113781051-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 20.90
- Population evidence available
- Structural context available
- Literature evidence available