I34T (p.Ile34Thr) variant of ATP6V1B1 (P15313)
I34T (p.Ile34Thr) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
I34T (p.Ile34Thr) variant details
- p.Ile34Thr
- ExAC rs782229065
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.44
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available