G1207R (p.Gly1207Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1207R (p.Gly1207Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G1207R (p.Gly1207Arg) variant details
- p.Gly1207Arg
- rs1167411352
- ClinGen CA350860020
- ClinVar RCV000991615
- gnomAD rs1167411352
- Pathogenic
- Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.97
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal dominant Alport syndrome; Hematuria, benign familial,)
- EBI: Pathogenic (in ATS3B)
- UniProt: Pathogenic (in ATS3B)
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)