G64V (p.Gly64Val) variant of HNF4A (P41235)
G64V (p.Gly64Val) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monogenic diabetes. The record also includes structural context.
G64V (p.Gly64Val) variant details
- p.Gly64Val
- rs2515644510
- NCI-TCGA Cosmic COSV5738
- cosmic curated COSV57382
- ClinGen CA409103809
- Likely pathogenic
- Monogenic diabetes
- Missense
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available