T82S (p.Thr82Ser) variant of ATP6V1A (P38606)
T82S (p.Thr82Ser) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
T82S (p.Thr82Ser) variant details
- p.Thr82Ser
- ExAC rs749171534
- gnomAD rs749171534
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.61
- CADD 21.30
- PolyPhen-2 0.10
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00047)
- Structural context available