G827R (p.Gly827Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G827R (p.Gly827Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Alport syndrome; Hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G827R (p.Gly827Arg) variant details
- p.Gly827Arg
- ExAC rs765810654
- gnomAD rs765810654
- Likely pathogenic
- Alport syndrome; Hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.97
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Hematuria)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available