G603S (p.Gly603Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G603S (p.Gly603Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G603S (p.Gly603Ser) variant details
- p.Gly603Ser
- rs1603290681
- ClinGen CA413845658
- ClinVar RCV000995734
- ClinVar RCV001328300
- Pathogenic
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.67
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.93
- ClinVar: Pathogenic (X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)