L42R (p.Leu42Arg) variant of MAP2K1 (Q02750)
L42R (p.Leu42Arg) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes experimental measurements and structural context.
L42R (p.Leu42Arg) variant details
- p.Leu42Arg
- rs1358265797
- ClinGen CA392929050
- ClinVar RCV002308925
- TOPMed rs1358265797
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.84
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.44
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.762