Y35* (p.Tyr35Ter) variant of COL4A4 (Collagen alpha-4(IV) chain)
Y35* (p.Tyr35Ter) 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 0.32 / 1. The record also includes population frequency data and structural context.
Y35* (p.Tyr35Ter) variant details
- p.Tyr35Ter
- rs756672670
- ClinGen CA2145805
- ClinVar RCV001922706
- ExAC rs756672670
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available