N75S (p.Asn75Ser) variant of DMD (Dystrophin)
N75S (p.Asn75Ser) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
N75S (p.Asn75Ser) variant details
- p.Asn75Ser
- rs2080508805
- ClinGen CA412674716
- ClinVar RCV001231624
- ClinVar RCV001834006
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.61
- MetaLR 0.83
- MetaSVM 0.84
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)