P9T (p.Pro9Thr) variant of ATP6V1B1 (P15313)
P9T (p.Pro9Thr) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P9T (p.Pro9Thr) variant details
- p.Pro9Thr
- Ensembl rs1679840462
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.18
- CADD 8.72
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available