P11T (p.Pro11Thr) variant of ATP1A2 (P50993)
P11T (p.Pro11Thr) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- gnomAD 1-160120924-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.27
- CADD 18.40
- PolyPhen-2 0.04
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available