G4G (p.Gly4Gly) variant of ATP1A1 (P05023)
G4G (p.Gly4Gly) in ATP1A1 (P05023) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G4G (p.Gly4Gly) variant details
- p.Gly4Gly
- gnomAD 1-116373523-G-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 21.00
- Most common in the Non-Finnish European population (allele frequency 0.0012)
- Structural context available
- Literature evidence available