T40M (p.Thr40Met) variant of HNF4A (P41235)
T40M (p.Thr40Met) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 1; Fanconi r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
T40M (p.Thr40Met) variant details
- p.Thr40Met
- rs199796094
- ClinGen CA9870157
- ClinVar RCV000711953
- ClinVar RCV000764240
- Uncertain significance
- Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 1; Fanconi r
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.29
- MetaLR 0.67
- MetaSVM 0.03
- CADD 19.50
- PolyPhen-2 0.23
- SIFT 0.04
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Maturity-onset diabetes of the young t)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)