R393H (p.Arg393His) variant of MECOM (Q03112)
R393H (p.Arg393His) in MECOM (Q03112) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of MECOM-associated syndrome.
R393H (p.Arg393His) variant details
- p.Arg393His
- NCI-TCGA Cosmic COSV5296
- cosmic curated COSV52965
- Likely pathogenic
- MECOM-associated syndrome
- Missense
- ClinVar: Likely pathogenic (MECOM-associated syndrome)
- UniProt: Likely pathogenic