G532D (p.Gly532Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
G532D (p.Gly532Asp) 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 Alport syndrome; Autosomal dominant Alport syndrome; Hematuria, benign familial. 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.
G532D (p.Gly532Asp) variant details
- p.Gly532Asp
- rs371405814
- UniProt VAR 030945
- ESP rs371405814
- ExAC rs371405814
- Likely pathogenic
- Alport syndrome; Autosomal dominant Alport syndrome; Hematuria, benign familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.95
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal dominant Alport syndrome; Hematuria,)
- 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: Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. (PMID 15954103)
- Cited in: Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. (PMID 11134255)