V57I (p.Val57Ile) variant of ATP6V1B1 (P15313)
V57I (p.Val57Ile) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
V57I (p.Val57Ile) variant details
- p.Val57Ile
- TOPMed rs1355993805
- gnomAD rs1355993805
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.47
- CADD 21.90
- PolyPhen-2 0.05
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available