T20P (p.Thr20Pro) variant of DMD (Dystrophin)
T20P (p.Thr20Pro) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Duchenne muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
T20P (p.Thr20Pro) variant details
- p.Thr20Pro
- rs774357500
- ClinGen CA412675289
- ClinVar RCV002444409
- Uncertain significance
- Duchenne muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.80
- MetaLR 0.92
- MetaSVM 1.03
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Duchenne muscular dystrophy)
- 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)