G584E (p.Gly584Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G584E (p.Gly584Glu) 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 Benign familial 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.
G584E (p.Gly584Glu) variant details
- p.Gly584Glu
- rs2150506036
- ClinGen CA350847092
- NCI-TCGA Cosmic COSV6163
- Likely pathogenic
- Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.97
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Benign familial hematuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available