T35I (p.Thr35Ile) variant of ATP6V1B1 (P15313)
T35I (p.Thr35Ile) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T35I (p.Thr35Ile) variant details
- p.Thr35Ile
- gnomAD 2-70936058-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.42
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available