P124Q (p.Pro124Gln) variant of MAP2K1 (Q02750)
P124Q (p.Pro124Gln) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiofaciocutaneous syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
P124Q (p.Pro124Gln) variant details
- p.Pro124Gln
- rs397516792
- ClinGen CA16602250
- ClinVar RCV001078439
- Ensembl rs397516792
- Pathogenic
- Cardiofaciocutaneous syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.98
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (Cardiofaciocutaneous syndrome 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate… (PMID 17551924)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)