G23K (p.Gly23Lys) variant of ATP1A1 (P05023)
G23K (p.Gly23Lys) in ATP1A1 (P05023) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G23K (p.Gly23Lys) variant details
- p.Gly23Lys
- gnomAD 1-116384066-AGGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available