G4W (p.Gly4Trp) variant of GNAT1 (P11488)
G4W (p.Gly4Trp) in GNAT1 (P11488) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G4W (p.Gly4Trp) variant details
- p.Gly4Trp
- Ensembl rs1699413898
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.67
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available