L11V (p.Leu11Val) variant of MAP2K1 (Q02750)
L11V (p.Leu11Val) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The record also includes experimental measurements and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- rs2140511655
- ClinGen CA392931552
- ClinVar RCV003539580
- Uncertain significance
- RASopathy
- Missense
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score -0.63