S32C (p.Ser32Cys) variant of COL4A4 (Collagen alpha-4(IV) chain)
S32C (p.Ser32Cys) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S32C (p.Ser32Cys) variant details
- p.Ser32Cys
- rs1360606073
- ClinGen CA765660207
- ClinVar RCV002828804
- ClinVar RCV004782964
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available