S10T (p.Ser10Thr) variant of ATP1A2 (P50993)
S10T (p.Ser10Thr) 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.
S10T (p.Ser10Thr) variant details
- p.Ser10Thr
- gnomAD 1-160120921-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.19
- CADD 15.80
- PolyPhen-2 0.08
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available