V21E (p.Val21Glu) variant of ATP6V1A (P38606)
V21E (p.Val21Glu) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V21E (p.Val21Glu) variant details
- p.Val21Glu
- gnomAD 3-113778815-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.93
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available