S10Y (p.Ser10Tyr) variant of ATP1A2 (P50993)
S10Y (p.Ser10Tyr) in ATP1A2 (P50993) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S10Y (p.Ser10Tyr) variant details
- p.Ser10Tyr
- gnomAD 1-160120921-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available