K18N (p.Lys18Asn) variant of DMD (Dystrophin)
K18N (p.Lys18Asn) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMD3B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
K18N (p.Lys18Asn) variant details
- p.Lys18Asn
- rs2093886366
- ClinGen CA412675298
- ClinVar RCV001348440
- UniProt VAR 023537
- Pathogenic
- in CMD3B
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.80
- EBI: Pathogenic (in CMD3B)
- UniProt: Pathogenic (in CMD3B)
- Structural context available
- Cited in: Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. (PMID 12359139)
- Cited in: Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability… (PMID 25340340)