I111N (p.Ile111Asn) variant of DMD (Dystrophin)
I111N (p.Ile111Asn) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
I111N (p.Ile111Asn) variant details
- p.Ile111Asn
- rs1603441549
- ClinGen CA412674468
- ClinVar RCV000990754
- Ensembl rs1603441549
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.94
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)