G1008R (p.Gly1008Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G1008R (p.Gly1008Arg) 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 Autosomal dominant COL4A4-related disorders; Hematuria, benign familial, 1; Auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G1008R (p.Gly1008Arg) variant details
- p.Gly1008Arg
- rs371172166
- ClinGen CA2144646
- ClinVar RCV000667417
- ClinVar RCV001861756
- Pathogenic/Likely pathogenic
- Autosomal dominant COL4A4-related disorders; Hematuria, benign familial, 1; Auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.81
- MetaLR 0.99
- MetaSVM 1.00
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant COL4A4-related disorders; Hematuria, benign f)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)