G4R (p.Gly4Arg) variant of ATP1A1 (P05023)
G4R (p.Gly4Arg) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- rs1307008508
- ClinGen CA341838785
- ClinVar RCV002645997
- TOPMed rs1307008508
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.32
- MetaLR 0.59
- MetaSVM -0.00
- CADD 21.20
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.33)
- Structural context available