I5T (p.Ile5Thr) variant of ATP6V1B1 (P15313)
I5T (p.Ile5Thr) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I5T (p.Ile5Thr) variant details
- p.Ile5Thr
- TOPMed rs1679840359
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.22
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available