K5E (p.Lys5Glu) variant of ATP6V1A (P38606)
K5E (p.Lys5Glu) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- gnomAD 3-113778766-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.34
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available