G10E (p.Gly10Glu) variant of ATP6V1B1 (P15313)
G10E (p.Gly10Glu) 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.
G10E (p.Gly10Glu) variant details
- p.Gly10Glu
- TOPMed rs879967148
- gnomAD rs879967148
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.25
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available