Q10L (p.Gln10Leu) variant of MAP2K1 (Q02750)
Q10L (p.Gln10Leu) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes experimental measurements and structural context.
Q10L (p.Gln10Leu) variant details
- p.Gln10Leu
- rs2093343985
- ClinGen CA392931543
- ClinVar RCV001194347
- Ensembl rs2093343985
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- AlphaMissense 0.08
- MetaLR 0.57
- MetaSVM -0.13
- PolyPhen-2 0.01
- SIFT 0.25
- MutPred 0.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score -0.0136