R66Q (p.Arg66Gln) variant of HNF4A (P41235)
R66Q (p.Arg66Gln) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Monogenic diabetes; not provided; Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
R66Q (p.Arg66Gln) variant details
- p.Arg66Gln
- rs561302824
- ClinGen CA9870173
- ClinVar RCV001174366
- ClinVar RCV002558767
- Conflicting interpretations
- Monogenic diabetes; not provided; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.058
- CADD 1.69
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Monogenic diabetes; not provided; Maturity-onset diabetes of the)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)