T43A (p.Thr43Ala) variant of ATP6V1B1 (P15313)
T43A (p.Thr43Ala) in ATP6V1B1 (P15313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
T43A (p.Thr43Ala) variant details
- p.Thr43Ala
- gnomAD rs1553416782
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.61
- CADD 23.80
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available