L92R (p.Leu92Arg) variant of MAP2K1 (Q02750)
L92R (p.Leu92Arg) 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 0.71 / 1. The record also includes experimental measurements, published literature, and structural context.
L92R (p.Leu92Arg) variant details
- p.Leu92Arg
- rs397516791
- ClinGen CA134601
- ClinVar RCV000158005
- ClinVar RCV000522848
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- AlphaMissense 0.77
- MetaLR 0.87
- MetaSVM 0.91
- PolyPhen-2 0.73
- SIFT 0.00
- EVE 0.22
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score -1.41
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)