T17K (p.Thr17Lys) variant of ATP6V1A (P38606)
T17K (p.Thr17Lys) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T17K (p.Thr17Lys) variant details
- p.Thr17Lys
- gnomAD 3-113778803-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.15
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.89
- Population evidence available
- Structural context available
- Literature evidence available