K57N (p.Lys57Asn) variant of MAP2K1 (Q02750)
K57N (p.Lys57Asn) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vascular malformation; not provided; Melorheostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
K57N (p.Lys57Asn) variant details
- p.Lys57Asn
- rs869025608
- Civic 1272
- ClinGen CA356995
- NCI-TCGA Cosmic COSV6106
- Pathogenic
- Vascular malformation; not provided; Melorheostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.32
- ClinVar: Pathogenic (Arteriovenous malformation)
- EBI: Pathogenic (in MEL)
- UniProt: Pathogenic (in MEL)
- Structural context available
- Cited in: Somatic activating mutations in MAP2K1 cause melorheostosis. (PMID 29643386)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)