S96N (p.Ser96Asn) variant of DMD (Dystrophin)
S96N (p.Ser96Asn) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S96N (p.Ser96Asn) variant details
- p.Ser96Asn
- rs1569529162
- ClinGen CA412674563
- cosmic curated COSV99926
- ClinVar RCV000733160
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.59
- MetaLR 0.87
- MetaSVM 0.89
- CADD 23.20
- PolyPhen-2 0.38
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)