K105I (p.Lys105Ile) variant of DMD (Dystrophin)
K105I (p.Lys105Ile) 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 0.94 / 1. The record also includes published literature and structural context.
K105I (p.Lys105Ile) variant details
- p.Lys105Ile
- rs398123928
- ClinGen CA222369
- ClinVar RCV002024555
- Ensembl rs398123928
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- 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)