V33M (p.Val33Met) variant of HNF4A (P41235)
V33M (p.Val33Met) 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 type 1; Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V33M (p.Val33Met) variant details
- p.Val33Met
- rs1170574009
- ClinGen CA409103270
- ClinVar RCV003228604
- gnomAD rs1170574009
- Uncertain significance
- Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.09
- MetaLR 0.74
- MetaSVM 0.43
- PolyPhen-2 0.36
- SIFT 0.04
- MutPred 0.29
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young type 1; Type 2 diabetes mel)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)