H36Q (p.His36Gln) variant of ATP6V1B1 (P15313)
H36Q (p.His36Gln) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
H36Q (p.His36Gln) variant details
- p.His36Gln
- TOPMed rs1356717545
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.12
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available