V57A (p.Val57Ala) variant of ATP6V1B1 (P15313)
V57A (p.Val57Ala) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V57A (p.Val57Ala) variant details
- p.Val57Ala
- gnomAD rs1553416809
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.76
- CADD 23.70
- PolyPhen-2 0.40
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available