G192W (p.Gly192Trp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G192W (p.Gly192Trp) 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 not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G192W (p.Gly192Trp) variant details
- p.Gly192Trp
- rs104886060
- ClinGen CA413922187
- ClinVar RCV000519675
- ClinVar RCV002476072
- Pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.08
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)