T97A (p.Thr97Ala) variant of DMD (Dystrophin)
T97A (p.Thr97Ala) 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 0.43 / 1. The record also includes published literature and structural context.
T97A (p.Thr97Ala) variant details
- p.Thr97Ala
- rs1557058403
- ClinGen CA412674558
- ClinVar RCV000559931
- Ensembl rs1557058403
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.07
- MetaLR 0.48
- MetaSVM -0.59
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.41
- 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)