K874N (p.Lys874Asn) variant of DMD (Dystrophin)
K874N (p.Lys874Asn) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neuromuscular disease caused by qualitative or quantitative defects of dystrophi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
K874N (p.Lys874Asn) variant details
- p.Lys874Asn
- rs2148630194
- ClinGen CA412671783
- ClinVar RCV002271796
- ClinVar RCV003512144
- Likely pathogenic
- Neuromuscular disease caused by qualitative or quantitative defects of dystrophi
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- AlphaMissense 0.34
- MetaLR 0.18
- MetaSVM -0.89
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.55
- ClinVar: Likely pathogenic (Neuromuscular disease caused by qualitative or quantitative defe)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Practice parameter: corticosteroid treatment of Duchenne dystrophy [RETIRED]: report of the Quality Standards… (PMID 15642897)
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)