D9E (p.Asp9Glu) variant of DMD (Dystrophin)
D9E (p.Asp9Glu) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
D9E (p.Asp9Glu) variant details
- p.Asp9Glu
- rs1470154494
- ClinGen CA412675109
- ClinVar RCV002441540
- TOPMed rs1470154494
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.14
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available