G439S (p.Gly439Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
G439S (p.Gly439Ser) 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 not provided; Autosomal dominant Alport syndrome; Hematuria, benign familial, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G439S (p.Gly439Ser) variant details
- p.Gly439Ser
- rs1553755124
- ClinGen CA350869638
- ClinVar RCV000666899
- ClinVar RCV001807646
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant Alport syndrome; Hematuria, benign familial, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.85
- MetaLR 0.98
- MetaSVM 1.06
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant Alport syndrome; Hematuria, ben)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. (PMID 11044206)
- Cited in: Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). (PMID 9269635)