Q27E (p.Gln27Glu) variant of ATP6V1B1 (P15313)
Q27E (p.Gln27Glu) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q27E (p.Gln27Glu) variant details
- p.Gln27Glu
- gnomAD 2-70936033-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.20
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available