G171S (p.Gly171Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G171S (p.Gly171Ser) 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 not provided; X-linked Alport syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G171S (p.Gly171Ser) variant details
- p.Gly171Ser
- rs1556404027
- ClinGen CA413920954
- ClinVar RCV001963996
- ClinVar RCV005406243
- Conflicting interpretations
- not provided; X-linked Alport syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked Alport syndrome; not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)