A14T (p.Ala14Thr) variant of ATP1A1 (P05023)
A14T (p.Ala14Thr) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- gnomAD 1-116384041-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.41
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available