N93D (p.Asn93Asp) variant of DMD (Dystrophin)
N93D (p.Asn93Asp) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
N93D (p.Asn93Asp) variant details
- p.Asn93Asp
- rs2148850616
- ClinGen CA2499226666
- ClinVar RCV001360321
- Ensembl rs2148850616
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.89
- MetaLR 0.92
- MetaSVM 1.04
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)