Y130H (p.Tyr130His) variant of MAP2K1 (Q02750)
Y130H (p.Tyr130His) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardio-facio-cutaneous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes experimental measurements, published literature, and structural context.
Y130H (p.Tyr130His) variant details
- p.Tyr130His
- rs397516793
- ClinGen CA279999
- ClinVar RCV000037596
- ClinVar RCV000623628
- Likely pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.40
- ClinVar: Likely pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Pathogenic (in CFC3)
- UniProt: Pathogenic (in CFC3)
- Structural context available
- MAP2K1 dabrafenib and cetuximab HT-29 cells: score 5.16
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)