L11Q (p.Leu11Gln) variant of MAP2K1 (Q02750)
L11Q (p.Leu11Gln) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L11Q (p.Leu11Gln) variant details
- p.Leu11Gln
- gnomAD 15-66387379-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.54
- MetaLR 0.75
- MetaSVM 0.36
- CADD 27.60
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score -0.63
- Literature evidence available