Y130C (p.Tyr130Cys) variant of MAP2K1 (Q02750)
Y130C (p.Tyr130Cys) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardio-facio-cutaneous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y130C (p.Tyr130Cys) variant details
- p.Tyr130Cys
- rs121908595
- ClinGen CA280036
- NCI-TCGA Cosmic COSV6106
- ClinVar RCV000043672
- Pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.98
- MetaLR 0.90
- MetaSVM 1.03
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Pathogenic (in CFC3)
- UniProt: Pathogenic (in CFC3)
- Population evidence available
- Structural context available
- MAP2K1 dabrafenib and cetuximab HT-29 cells: score 5.16
- Cited in: Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. (PMID 16439621)
- Cited in: Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate… (PMID 17551924)