D15H (p.Asp15His) variant of DMD (Dystrophin)
D15H (p.Asp15His) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
D15H (p.Asp15His) variant details
- p.Asp15His
- rs876657780
- ClinGen CA10577170
- ClinVar RCV000215055
- ClinVar RCV001833199
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.58
- MetaLR 0.88
- MetaSVM 0.94
- CADD 34.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)