A5T (p.Ala5Thr) variant of ATP1A2 (P50993)
A5T (p.Ala5Thr) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- gnomAD 1-160120906-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.24
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available