W24* (p.Trp24Ter) variant of COL4A4 (Collagen alpha-4(IV) chain)
W24* (p.Trp24Ter) in COL4A4 (Collagen alpha-4(IV) chain) 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 0.88 / 1. The record also includes population frequency data and structural context.
W24* (p.Trp24Ter) variant details
- p.Trp24Ter
- rs2125348371
- ClinGen CA350842732
- ClinVar RCV002037765
- Ensembl rs2125348371
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available