E14K (p.Glu14Lys) variant of DMD (Dystrophin)
E14K (p.Glu14Lys) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- gnomAD rs1389235987
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.65
- MetaLR 0.85
- MetaSVM 0.85
- CADD 25.60
- PolyPhen-2 0.33
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available