V28M (p.Val28Met) variant of ATP6V1A (P38606)
V28M (p.Val28Met) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
V28M (p.Val28Met) variant details
- p.Val28Met
- gnomAD 3-113778835-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.87
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available