N86K (p.Asn86Lys) variant of DMD (Dystrophin)
N86K (p.Asn86Lys) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystroph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N86K (p.Asn86Lys) variant details
- p.Asn86Lys
- rs1368237586
- ClinGen CA412674643
- ClinVar RCV002569835
- TOPMed rs1368237586
- Uncertain significance
- Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystroph
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.26
- MetaLR 0.54
- MetaSVM -0.33
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dys)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)