P99A (p.Pro99Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
P99A (p.Pro99Ala) 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 published literature and structural context.
P99A (p.Pro99Ala) variant details
- p.Pro99Ala
- rs2476238585
- ClinGen CA2580065932
- ClinVar RCV002838182
- ClinVar RCV005027980
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)