G739R (p.Gly739Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G739R (p.Gly739Arg) 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 Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes population frequency data, published literature, and structural context.
G739R (p.Gly739Arg) variant details
- p.Gly739Arg
- rs375040636
- ClinGen CA16040867
- ClinVar RCV000411680
- ClinVar RCV001850974
- Likely pathogenic
- Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- MutPred 0.99
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Autosomal recessive Alport s)
- EBI: Pathogenic (in ATS3B)
- UniProt: Pathogenic (in ATS3B)
- Population evidence available
- 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)