E285D (p.Glu285Asp) variant of HNF4A (P41235)
E285D (p.Glu285Asp) 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 0.93 / 1. The record also includes published literature and structural context.
E285D (p.Glu285Asp) variant details
- p.Glu285Asp
- rs1568736971
- ClinGen CA409107570
- ClinVar RCV000711964
- ClinVar RCV003148854
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Variant of uncertain significance (in MODY1)
- UniProt: Uncertain significance (in MODY1)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)