N126D (p.Asn126Asp) variant of MAP2K2 (P36507)
N126D (p.Asn126Asp) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiofaciocutaneous syndrome 4; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
N126D (p.Asn126Asp) variant details
- p.Asn126Asp
- rs1057519806
- ClinGen CA16602631
- cosmic curated COSV53566
- ClinVar RCV000824947
- Pathogenic/Likely pathogenic
- Cardiofaciocutaneous syndrome 4; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- AlphaMissense 0.76
- MetaLR 0.77
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.08
- EVE 0.43
- ClinVar: Pathogenic/Likely pathogenic (Cardiofaciocutaneous syndrome 4; RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)