T70S (p.Thr70Ser) variant of ATP6V1A (P38606)
T70S (p.Thr70Ser) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T70S (p.Thr70Ser) variant details
- p.Thr70Ser
- gnomAD 3-113781175-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.85
- CADD 23.80
- PolyPhen-2 0.25
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available