D67N (p.Asp67Asn) variant of MAP2K1 (Q02750)
D67N (p.Asp67Asn) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardio-facio-cutaneous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D67N (p.Asp67Asn) variant details
- p.Asp67Asn
- rs727504317
- ClinGen CA180743
- NCI-TCGA Cosmic COSV6106
- NCI-TCGA Cosmic COSV6107
- Pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.70
- MetaLR 0.39
- MetaSVM -0.30
- CADD 25.80
- PolyPhen-2 0.64
- SIFT 0.18
- ClinVar: Pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score -0.472
- Cited in: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay… (PMID 16301868)
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)