G792E (p.Gly792Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G792E (p.Gly792Glu) in COL4A4 (Collagen alpha-4(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 recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G792E (p.Gly792Glu) variant details
- p.Gly792Glu
- 1000Genomes rs538043516
- ExAC rs538043516
- gnomAD rs538043516
- Likely pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.94
- MetaLR 0.99
- MetaSVM 0.97
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal recessive Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available