I34V (p.Ile34Val) variant of ATP6V1B1 (P15313)
I34V (p.Ile34Val) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I34V (p.Ile34Val) variant details
- p.Ile34Val
- gnomAD rs1553415291
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.18
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available