Q10* (p.Gln10Ter) variant of COL4A3 (Collagen alpha-3(IV) chain)
Q10* (p.Gln10Ter) in COL4A3 (Collagen alpha-3(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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q10* (p.Gln10Ter) variant details
- p.Gln10Ter
- rs1453590085
- ClinGen CA350845978
- ClinVar RCV000995722
- ClinVar RCV001238070
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)