S42N (p.Ser42Asn) variant of DMD (Dystrophin)
S42N (p.Ser42Asn) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S42N (p.Ser42Asn) variant details
- p.Ser42Asn
- rs1557084218
- ClinGen CA412674937
- ClinVar RCV000611776
- ClinVar RCV002528702
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.19
- MetaLR 0.65
- MetaSVM -0.01
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.70
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5e-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)