Q10H (p.Gln10His) variant of MAP2K1 (Q02750)
Q10H (p.Gln10His) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- Ensembl rs1595831212
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.43
- MetaLR 0.58
- MetaSVM 0.16
- CADD 22.90
- PolyPhen-2 0.13
- SIFT 0.14
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score -0.0136