N26K (p.Asn26Lys) variant of DMD (Dystrophin)
N26K (p.Asn26Lys) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
N26K (p.Asn26Lys) variant details
- p.Asn26Lys
- rs794727272
- ClinGen CA241527
- ClinVar RCV000175769
- ClinVar RCV003335178
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 0.94
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- 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)