G532C (p.Gly532Cys) variant of COL4A3 (Collagen alpha-3(IV) chain)
G532C (p.Gly532Cys) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G532C (p.Gly532Cys) variant details
- p.Gly532Cys
- rs779575469
- ClinGen CA350871528
- ClinVar RCV000786944
- ClinVar RCV000995727
- Pathogenic/Likely pathogenic
- Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.97
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant Alport syndrome; Hematuria, benign familial,)
- EBI: Pathogenic (in ATS3B)
- UniProt: Pathogenic (in ATS3B)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)