W3* (p.Trp3Ter) variant of DMD (Dystrophin)
W3* (p.Trp3Ter) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
W3* (p.Trp3Ter) variant details
- p.Trp3Ter
- rs398122853
- ClinGen CA259713
- ClinVar RCV000022854
- ClinVar RCV000173322
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Rapid direct sequence analysis of the dystrophin gene. (PMID 12632325)
- Cited in: DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. (PMID 19206170)