V28L (p.Val28Leu) variant of ATP6V1A (P38606)
V28L (p.Val28Leu) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- gnomAD 3-113778835-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.76
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available