A26V (p.Ala26Val) variant of MAP2K1 (Q02750)
A26V (p.Ala26Val) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs1290811972
- ClinGen CA392931740
- ClinVar RCV003115366
- gnomAD rs1290811972
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.47
- MetaLR 0.58
- MetaSVM 0.05
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.13
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-06)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.108