G563R (p.Gly563Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G563R (p.Gly563Arg) 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; Alport syndrome; Autosomal dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G563R (p.Gly563Arg) variant details
- p.Gly563Arg
- rs1553757060
- TOPMed rs1553757060
- ClinGen CA350871825
- ClinVar RCV000674357
- Pathogenic/Likely pathogenic
- not provided; Alport syndrome; Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 1.04
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Alport syndrome; Autosomal dominant Alport syndrom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)