G132D (p.Gly132Asp) variant of MAP2K2 (P36507)
G132D (p.Gly132Asp) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Cardiofaciocutaneous syndrome 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
G132D (p.Gly132Asp) variant details
- p.Gly132Asp
- rs387906800
- ClinGen CA250288
- cosmic curated COSV10730
- ClinVar RCV000023088
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Cardiofaciocutaneous syndrome 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- AlphaMissense 0.92
- MetaLR 0.74
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Cardiofaciocutaneous syndrome 4; not p)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. (PMID 21178588)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)