V24F (p.Val24Phe) variant of ATP6V1A (P38606)
V24F (p.Val24Phe) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
V24F (p.Val24Phe) variant details
- p.Val24Phe
- gnomAD 3-113778823-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.90
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available