C10S (p.Cys10Ser) variant of DMD (Dystrophin)
C10S (p.Cys10Ser) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
C10S (p.Cys10Ser) variant details
- p.Cys10Ser
- rs794726909
- ClinGen CA238779
- ClinVar RCV000173316
- ClinVar RCV000797337
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.21
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.64
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)