A22V (p.Ala22Val) variant of ATP6V1B1 (P15313)
A22V (p.Ala22Val) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- 1000Genomes rs570549292
- ExAC rs570549292
- gnomAD rs570549292
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.26
- CADD 15.50
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available