S10* (p.Ser10Ter) variant of ATP1A2 (P50993)
S10* (p.Ser10Ter) in ATP1A2 (P50993) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S10* (p.Ser10Ter) variant details
- p.Ser10Ter
- gnomAD 1-160120922-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.81
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available