P7T (p.Pro7Thr) variant of ATP6V1A (P38606)
P7T (p.Pro7Thr) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- gnomAD 3-113778772-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.31
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available