D16H (p.Asp16His) variant of MAP2K1 (Q02750)
D16H (p.Asp16His) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D16H (p.Asp16His) variant details
- p.Asp16His
- Ensembl rs2140511706
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.47
- MetaLR 0.58
- MetaSVM -0.03
- CADD 23.40
- PolyPhen-2 0.38
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score 0.408