E65D (p.Glu65Asp) variant of DMD (Dystrophin)
E65D (p.Glu65Asp) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Duchenne muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E65D (p.Glu65Asp) variant details
- p.Glu65Asp
- TOPMed rs1236571983
- gnomAD rs1236571983
- Uncertain significance
- Duchenne muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.55
- MetaLR 0.89
- MetaSVM 0.87
- CADD 24.90
- SIFT 0.00
- ClinVar: Uncertain significance (Duchenne muscular dystrophy)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available