L42F (p.Leu42Phe) variant of MAP2K1 (Q02750)
L42F (p.Leu42Phe) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes experimental measurements, published literature, and structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- rs397516789
- ClinGen CA279993
- ClinVar RCV000037590
- ClinVar RCV001582510
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.44
- MetaLR 0.67
- MetaSVM 0.34
- PolyPhen-2 0.55
- SIFT 0.00
- MutPred 0.55
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.762
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)