K57E (p.Lys57Glu) variant of MAP2K1 (Q02750)
K57E (p.Lys57Glu) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Melorheostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
K57E (p.Lys57Glu) variant details
- p.Lys57Glu
- rs397516790
- ClinGen CA16602628
- ClinVar RCV002051705
- ClinVar RCV005230294
- Pathogenic
- Melorheostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.77
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.82
- CADD 28.70
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Melorheostosis)
- EBI: Pathogenic (in MEL)
- UniProt: Pathogenic (in MEL)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Somatic activating mutations in MAP2K1 cause melorheostosis. (PMID 29643386)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)