K57Q (p.Lys57Gln) variant of MAP2K1 (Q02750)
K57Q (p.Lys57Gln) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
K57Q (p.Lys57Gln) variant details
- p.Lys57Gln
- rs397516790
- ClinGen CA134595
- ClinVar RCV000037591
- ClinVar RCV000158014
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.82
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.38
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Pathogenic (in MEL)
- UniProt: Pathogenic (in MEL)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)