G873R (p.Gly873Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G873R (p.Gly873Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; Benign famil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G873R (p.Gly873Arg) variant details
- p.Gly873Arg
- rs929684384
- ClinGen CA66585148
- NCI-TCGA Cosmic COSV1003
- ClinVar RCV001245688
- Pathogenic/Likely pathogenic
- Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; Benign famil
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.87
- MetaLR 0.99
- MetaSVM 1.04
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hematuria, benign familial, 1; Autosomal recessive Alport syndro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)