G20A (p.Gly20Ala) variant of ATP1A2 (P50993)
G20A (p.Gly20Ala) in ATP1A2 (P50993) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G20A (p.Gly20Ala) variant details
- p.Gly20Ala
- gnomAD 1-160120947-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 27.90
- Population evidence available
- Structural context available
- Literature evidence available