D55G (p.Asp55Gly) variant of ATP6V1B1 (P15313)
D55G (p.Asp55Gly) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
D55G (p.Asp55Gly) variant details
- p.Asp55Gly
- gnomAD 2-70943703-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.60
- CADD 25.70
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available