N122D (p.Asn122Asp) variant of MAP2K1 (Q02750)
N122D (p.Asn122Asp) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
N122D (p.Asn122Asp) variant details
- p.Asn122Asp
- rs876657651
- ClinGen CA10576999
- NCI-TCGA Cosmic COSV6107
- ClinVar RCV000220187
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.88
- MetaLR 0.16
- MetaSVM -0.92
- PolyPhen-2 0.89
- SIFT 0.08
- EVE 0.28
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: Noonan Syndrome. (PMID 20301303)