G1167R (p.Gly1167Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1167R (p.Gly1167Arg) 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; Hematuria, benign familial, 1; Alport syndrome. 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.
G1167R (p.Gly1167Arg) variant details
- p.Gly1167Arg
- rs267606745
- ClinGen CA257973
- ClinVar RCV000019044
- ClinVar RCV000673273
- Pathogenic/Likely pathogenic
- not provided; Hematuria, benign familial, 1; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hematuria, benign familial, 1; Alport syndrome)
- EBI: Pathogenic (in ATS3A)
- UniProt: Pathogenic (in ATS3A)
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. (PMID 11134255)
- Cited in: Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. (PMID 15954103)