K34* (p.Lys34Ter) variant of DMD (Dystrophin)
K34* (p.Lys34Ter) in DMD (Dystrophin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
K34* (p.Lys34Ter) variant details
- p.Lys34Ter
- rs1557084280
- ClinGen CA412674996
- ClinVar RCV000711445
- Ensembl rs1557084280
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.667
- AlphaMissense 0.28
- MetaLR 0.76
- MetaSVM 0.54
- PolyPhen-2 0.62
- SIFT 0.01
- MutPred 0.51
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available