V53A (p.Val53Ala) variant of ATP6V1B1 (P15313)
V53A (p.Val53Ala) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V53A (p.Val53Ala) variant details
- p.Val53Ala
- gnomAD 2-70943697-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.59
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available