Q60H (p.Gln60His) variant of MAP2K2 (P36507)
Q60H (p.Gln60His) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Cardiofaciocutaneous syndrome 4. The record also includes structural context.
Q60H (p.Gln60His) variant details
- p.Gln60His
- Ensembl rs2145080453
- Likely pathogenic
- Cardiofaciocutaneous syndrome 4
- Missense
- ClinVar: Likely pathogenic (Cardiofaciocutaneous syndrome 4)
- UniProt: Likely pathogenic
- Structural context available