G532S (p.Gly532Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
G532S (p.Gly532Ser) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Benign familial hematuria; Autosomal dominant Alport syndrome; Autosomal recessi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G532S (p.Gly532Ser) variant details
- p.Gly532Ser
- rs779575469
- ClinGen CA2146723
- ClinVar RCV002017531
- ClinVar RCV002498013
- Conflicting interpretations
- Benign familial hematuria; Autosomal dominant Alport syndrome; Autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 1.00
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Benign familial hematuria; Autosomal dominant Alport syndrome; A)
- EBI: Pathogenic (in ATS3B)
- UniProt: Pathogenic (in ATS3B)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)