N87S (p.Asn87Ser) variant of DMD (Dystrophin)
N87S (p.Asn87Ser) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
N87S (p.Asn87Ser) variant details
- p.Asn87Ser
- rs1452900149
- ClinGen CA412674637
- ClinVar RCV001908178
- ClinVar RCV004041427
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.40
- MetaLR 0.66
- MetaSVM 0.34
- CADD 20.90
- PolyPhen-2 0.26
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)