Q56P (p.Gln56Pro) variant of MAP2K1 (Q02750)
Q56P (p.Gln56Pro) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Non-small cell lung carcinoma; Extracranial arteriovenous malforma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
Q56P (p.Gln56Pro) variant details
- p.Gln56Pro
- rs1057519729
- ClinGen CA16602453
- ClinVar RCV000418731
- ClinVar RCV002051704
- Pathogenic
- not provided; Non-small cell lung carcinoma; Extracranial arteriovenous malforma
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 0.94
- PolyPhen-2 0.70
- SIFT 0.01
- EVE 0.25
- ClinVar: Pathogenic (not provided; Non-small cell lung carcinoma; Extracranial arteri)
- EBI: Pathogenic (in MEL)
- UniProt: Pathogenic (in MEL)
- 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)