T43I (p.Thr43Ile) variant of ATP6V1B1 (P15313)
T43I (p.Thr43Ile) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
T43I (p.Thr43Ile) variant details
- p.Thr43Ile
- gnomAD rs1553416784
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.60
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available