A26E (p.Ala26Glu) variant of MAP2K1 (Q02750)
A26E (p.Ala26Glu) in MAP2K1 (Q02750) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A26E (p.Ala26Glu) variant details
- p.Ala26Glu
- gnomAD rs1290811972
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.57
- MetaLR 0.56
- MetaSVM 0.02
- CADD 22.30
- PolyPhen-2 0.19
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.108