G4R (p.Gly4Arg) variant of GNAT1 (P11488)
G4R (p.Gly4Arg) in GNAT1 (P11488) 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 0.61 / 1. The record also includes population frequency data and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- rs1699413898
- ClinGen CA352908606
- ClinVar RCV001867666
- Ensembl rs1699413898
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.57
- CADD 23.10
- PolyPhen-2 0.44
- SIFT 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available