G467R (p.Gly467Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G467R (p.Gly467Arg) 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 Alport syndrome; Autosomal dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G467R (p.Gly467Arg) variant details
- p.Gly467Arg
- rs201088233
- ClinVar RCV004556952
- ClinVar RCV006249914
- 1000Genomes rs201088233
- Pathogenic/Likely pathogenic
- Alport syndrome; Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.92
- MetaLR 0.99
- MetaSVM 1.00
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alport syndrome; Autosomal dominant Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)