G698R (p.Gly698Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G698R (p.Gly698Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G698R (p.Gly698Arg) variant details
- p.Gly698Arg
- rs1241404192
- ClinGen CA350842405
- ClinVar RCV000681925
- ClinVar RCV001277171
- Pathogenic/Likely pathogenic
- Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 1.02
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hematuria, benign familial, 1; Autosomal recessive Alport syndro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)