K79E (p.Lys79Glu) variant of DMD (Dystrophin)
K79E (p.Lys79Glu) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. 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.
K79E (p.Lys79Glu) variant details
- p.Lys79Glu
- rs2524853222
- ClinGen CA412674691
- ClinVar RCV002448508
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.81
- MetaLR 0.89
- MetaSVM 0.98
- CADD 23.60
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available