E12K (p.Glu12Lys) variant of DMD (Dystrophin)
E12K (p.Glu12Lys) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- ExAC rs759615251
- gnomAD rs759615251
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.84
- MetaLR 0.95
- MetaSVM 1.10
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available