V24A (p.Val24Ala) variant of ATP6V1A (P38606)
V24A (p.Val24Ala) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V24A (p.Val24Ala) variant details
- p.Val24Ala
- gnomAD 3-113778824-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.92
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available