G1192E (p.Gly1192Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1192E (p.Gly1192Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G1192E (p.Gly1192Glu) variant details
- p.Gly1192Glu
- rs1574823172
- ClinGen CA350859902
- ClinVar RCV000787016
- ClinVar RCV001391172
- Pathogenic/Likely pathogenic
- Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 0.84
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant Alport syndrome; Hematuria, benign familial,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)