G55R (p.Gly55Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G55R (p.Gly55Arg) 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 Alport syndrome; Autosomal dominant Alport syndrome; Hematuria, benign familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G55R (p.Gly55Arg) variant details
- p.Gly55Arg
- Ensembl rs2125891456
- Likely pathogenic
- Alport syndrome; Autosomal dominant Alport syndrome; Hematuria, benign familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.92
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal dominant Alport syndrome; Hematuria,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available