G64R (p.Gly64Arg) variant of HNF4A (P41235)
G64R (p.Gly64Arg) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G64R (p.Gly64Arg) variant details
- p.Gly64Arg
- rs769007443
- ClinGen CA9870171
- ClinVar RCV003993724
- ClinVar RCV005030371
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.95
- MetaLR 0.94
- MetaSVM 1.08
- CADD 25.90
- PolyPhen-2 0.43
- SIFT 0.01
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)