G1385E (p.Gly1385Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1385E (p.Gly1385Glu) 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.
G1385E (p.Gly1385Glu) variant details
- p.Gly1385Glu
- ExAC rs752254472
- gnomAD rs752254472
- Likely pathogenic
- Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 1.04
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Hematuria, benign familial,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available