V24I (p.Val24Ile) variant of ATP6V1A (P38606)
V24I (p.Val24Ile) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V24I (p.Val24Ile) variant details
- p.Val24Ile
- gnomAD 3-113778823-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.51
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available