E285K (p.Glu285Lys) variant of HNF4A (P41235)
E285K (p.Glu285Lys) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 1; not provided. The record also includes structural context.
E285K (p.Glu285Lys) variant details
- p.Glu285Lys
- rs1385142974
- ClinGen CA409107566
- ClinVar RCV003838032
- Likely pathogenic
- Maturity-onset diabetes of the young type 1; not provided
- Missense
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 1; not provided)
- EBI: Likely pathogenic (in MODY1)
- UniProt: Likely pathogenic (in MODY1)
- Structural context available