D55A (p.Asp55Ala) variant of ATP6V1B1 (P15313)
D55A (p.Asp55Ala) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D55A (p.Asp55Ala) variant details
- p.Asp55Ala
- gnomAD 2-70943703-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.66
- CADD 24.60
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available