N26H (p.Asn26His) variant of DMD (Dystrophin)
N26H (p.Asn26His) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
N26H (p.Asn26His) variant details
- p.Asn26His
- rs1057521321
- ClinGen CA412675248
- ClinVar RCV000699928
- Ensembl rs1057521321
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.69
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- EBI: Likely benign
- UniProt: Likely benign
- 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)