G279E (p.Gly279Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G279E (p.Gly279Glu) 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 Autosomal dominant Alport syndrome; Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G279E (p.Gly279Glu) variant details
- p.Gly279Glu
- rs2060622881
- ClinGen CA350857738
- ClinVar RCV001089911
- Ensembl rs2060622881
- Likely pathogenic
- Autosomal dominant Alport syndrome; Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.82
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Benign familial hematuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)