G10A (p.Gly10Ala) variant of ATP6V1B1 (P15313)
G10A (p.Gly10Ala) 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.
G10A (p.Gly10Ala) variant details
- p.Gly10Ala
- TOPMed rs879967148
- gnomAD rs879967148
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.23
- CADD 11.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available