G593R (p.Gly593Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G593R (p.Gly593Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of COL4A3-related disorder; Hematuria, benign familial, 2; Alport syndrome 3b, auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G593R (p.Gly593Arg) variant details
- p.Gly593Arg
- rs2469699523
- ClinGen CA350844771
- ClinVar RCV003421151
- ClinVar RCV005021957
- Likely pathogenic
- COL4A3-related disorder; Hematuria, benign familial, 2; Alport syndrome 3b, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.82
- MetaLR 0.98
- MetaSVM 1.03
- CADD 22.70
- PolyPhen-2 0.31
- SIFT 0.00
- ClinVar: Likely pathogenic (COL4A3-related disorder; Hematuria, benign familial, 2; Alport s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)