G409S (p.Gly409Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G409S (p.Gly409Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G409S (p.Gly409Ser) variant details
- p.Gly409Ser
- rs2066425550
- ClinGen CA413932449
- ClinVar RCV001251478
- Ensembl rs2066425550
- Conflicting interpretations
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- AlphaMissense 0.78
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.99
- ClinVar: Conflicting classifications of pathogenicity (X-linked Alport syndrome)
- EBI: Likely pathogenic (in ATS1)
- UniProt: Likely pathogenic (in ATS1)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)