A50V (p.Ala50Val) variant of HNF4A (P41235)
A50V (p.Ala50Val) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- rs140143857
- ClinGen CA9870161
- ClinVar RCV001288636
- ClinVar RCV003148967
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.19
- MetaLR 0.65
- MetaSVM 0.03
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0002)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)