G634R (p.Gly634Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G634R (p.Gly634Arg) 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 0.99 / 1. The record also includes published literature and structural context.
G634R (p.Gly634Arg) variant details
- p.Gly634Arg
- rs1060499696
- ClinVar RCV000449541
- ClinVar RCV005018741
- Ensembl rs1060499696
- Pathogenic/Likely pathogenic
- Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- MutPred 0.99
- 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)