G487R (p.Gly487Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G487R (p.Gly487Arg) 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; Hematuria, benign familial, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G487R (p.Gly487Arg) variant details
- p.Gly487Arg
- ExAC rs745472969
- TOPMed rs745472969
- gnomAD rs745472969
- Likely pathogenic
- Autosomal dominant Alport syndrome; Hematuria, benign familial, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.72
- MetaLR 0.98
- MetaSVM 1.02
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Hematuria, benign familial,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available