I94T (p.Ile94Thr) variant of DMD (Dystrophin)
I94T (p.Ile94Thr) 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 0.92 / 1. The record also includes published literature and structural context.
I94T (p.Ile94Thr) variant details
- p.Ile94Thr
- rs2078436389
- ClinGen CA412674576
- ClinVar RCV001247324
- ClinVar RCV001830008
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.81
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.88
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)