K61N (p.Lys61Asn) variant of MAP2K2 (P36507)
K61N (p.Lys61Asn) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiofaciocutaneous syndrome 4; RASopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
K61N (p.Lys61Asn) variant details
- p.Lys61Asn
- rs886041310
- ClinGen CA403392690
- ClinVar RCV000603653
- ClinVar RCV000824943
- Conflicting interpretations
- Cardiofaciocutaneous syndrome 4; RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.39
- ClinVar: Conflicting classifications of pathogenicity (not specified; RASopathy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)