D98G (p.Asp98Gly) variant of DMD (Dystrophin)
D98G (p.Asp98Gly) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D98G (p.Asp98Gly) variant details
- p.Asp98Gly
- rs772375271
- ClinGen CA10380190
- ClinVar RCV001923715
- ClinVar RCV005635317
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-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)