Y130N (p.Tyr130Asn) variant of MAP2K1 (Q02750)
Y130N (p.Tyr130Asn) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiofaciocutaneous syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes experimental measurements, published literature, and structural context.
Y130N (p.Tyr130Asn) variant details
- p.Tyr130Asn
- rs397516793
- ClinGen CA392930783
- NCI-TCGA Cosmic COSV6107
- Pathogenic
- Cardiofaciocutaneous syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.40
- ClinVar: Pathogenic (Cardiofaciocutaneous syndrome 3)
- EBI: Pathogenic (in CFC3)
- UniProt: Pathogenic (in CFC3)
- Structural context available
- MAP2K1 dabrafenib and cetuximab HT-29 cells: score 5.16
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)