G45D (p.Gly45Asp) variant of HNF4A (P41235)
G45D (p.Gly45Asp) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Maturity-onset diabetes of the young; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- rs773661614
- ClinGen CA9870159
- ClinVar RCV000992159
- ClinVar RCV003148903
- Uncertain significance
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.24
- MetaLR 0.58
- MetaSVM -0.11
- CADD 20.40
- PolyPhen-2 0.03
- SIFT 0.32
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)