P63S (p.Pro63Ser) variant of DMD (Dystrophin)
P63S (p.Pro63Ser) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P63S (p.Pro63Ser) variant details
- p.Pro63Ser
- rs1386946939
- ClinGen CA412674798
- ClinVar RCV001912610
- TOPMed rs1386946939
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.45
- MetaLR 0.67
- MetaSVM 0.28
- CADD 20.90
- PolyPhen-2 0.19
- SIFT 0.56
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)