A19V (p.Ala19Val) variant of MAP2K1 (Q02750)
A19V (p.Ala19Val) 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 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- ExAC rs727504413
- TOPMed rs727504413
- gnomAD rs727504413
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.36
- MetaLR 0.65
- MetaSVM 0.13
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.15
- 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 0.944