G124D (p.Gly124Asp) variant of HNF4A (P41235)
G124D (p.Gly124Asp) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G124D (p.Gly124Asp) variant details
- p.Gly124Asp
- rs1396612785
- ClinGen CA409104379
- ClinVar RCV002444197
- ClinVar RCV003326017
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)