A26T (p.Ala26Thr) variant of MAP2K1 (Q02750)
A26T (p.Ala26Thr) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs1228037386
- ClinGen CA392931731
- ClinVar RCV001759248
- TOPMed rs1228037386
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.40
- MetaLR 0.51
- MetaSVM -0.25
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.108