W47* (p.Trp47Ter) variant of CHM (P24386)
W47* (p.Trp47Ter) in CHM (P24386) 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 0.75 / 1. The record also includes population frequency data and structural context.
W47* (p.Trp47Ter) variant details
- p.Trp47Ter
- rs1931627432
- ClinGen CA413788342
- ClinVar RCV001234034
- Ensembl rs1931627432
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available