E55D (p.Glu55Asp) variant of DMD (Dystrophin)
E55D (p.Glu55Asp) in DMD (Dystrophin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E55D (p.Glu55Asp) variant details
- p.Glu55Asp
- NCI-TCGA Cosmic COSV5589
- cosmic curated COSV55892
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.84
- MetaLR 0.93
- MetaSVM 1.07
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available