E203K (p.Glu203Lys) variant of MAP2K1 (Q02750)
E203K (p.Glu203Lys) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases; Cardiofaciocutaneous syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes experimental measurements, published literature, and structural context.
E203K (p.Glu203Lys) variant details
- p.Glu203Lys
- rs1057519733
- ClinGen CA16602457
- cosmic curated COSV61068
- ClinVar RCV001266169
- Likely pathogenic
- Inborn genetic diseases; Cardiofaciocutaneous syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.93
- MetaLR 0.19
- MetaSVM -0.69
- PolyPhen-2 1.00
- SIFT 0.22
- EVE 0.24
- ClinVar: Likely pathogenic (Inborn genetic diseases; Cardiofaciocutaneous syndrome 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 1.34
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)