K61E (p.Lys61Glu) variant of MAP2K2 (P36507)
K61E (p.Lys61Glu) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cardiofaciocutaneous syndrome 4; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
K61E (p.Lys61Glu) variant details
- p.Lys61Glu
- rs730880517
- ClinGen CA280074
- ClinVar RCV000158039
- ClinVar RCV000200295
- Pathogenic/Likely pathogenic
- not provided; Cardiofaciocutaneous syndrome 4; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cardiofaciocutaneous syndrome 4; RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)