E38D (p.Glu38Asp) variant of DMD (Dystrophin)
E38D (p.Glu38Asp) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E38D (p.Glu38Asp) variant details
- p.Glu38Asp
- gnomAD rs1458160863
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.29
- MetaLR 0.57
- MetaSVM -0.49
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available