E4K (p.Glu4Lys) variant of ATP6V1B1 (P15313)
E4K (p.Glu4Lys) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- gnomAD 2-70935964-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.19
- CADD 5.07
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available