G922E (p.Gly922Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G922E (p.Gly922Glu) 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; Alport syndro. 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.
G922E (p.Gly922Glu) variant details
- p.Gly922Glu
- TOPMed rs920413118
- gnomAD rs920413118
- Likely pathogenic
- Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.99
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- 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 1.8e-06)
- Structural context available