F32S (p.Phe32Ser) variant of DMD (Dystrophin)
F32S (p.Phe32Ser) 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 0.44 / 1. The record also includes published literature and structural context.
F32S (p.Phe32Ser) variant details
- p.Phe32Ser
- rs2080986752
- ClinGen CA412675008
- ClinVar RCV001034973
- ClinVar RCV001274388
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.14
- MetaLR 0.42
- MetaSVM -0.53
- PolyPhen-2 0.05
- SIFT 0.80
- MutPred 0.48
- 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)