E12Q (p.Glu12Gln) variant of DMD (Dystrophin)
E12Q (p.Glu12Gln) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
E12Q (p.Glu12Gln) variant details
- p.Glu12Gln
- ExAC rs759615251
- gnomAD rs759615251
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.77
- MetaLR 0.93
- MetaSVM 1.07
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available