E203A (p.Glu203Ala) variant of MAP2K1 (Q02750)
E203A (p.Glu203Ala) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiofaciocutaneous syndrome 3; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes experimental measurements, published literature, and structural context.
E203A (p.Glu203Ala) variant details
- p.Glu203Ala
- rs727503996
- ClinGen CA392936203
- ClinVar RCV001261061
- ClinVar RCV001349797
- Pathogenic/Likely pathogenic
- Cardiofaciocutaneous syndrome 3; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- AlphaMissense 0.98
- MetaLR 0.42
- MetaSVM -0.15
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.46
- ClinVar: Pathogenic/Likely pathogenic (Cardiofaciocutaneous syndrome 3; RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 1.34
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)