G1018R (p.Gly1018Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G1018R (p.Gly1018Arg) 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 0.91 / 1. The record also includes population frequency data and structural context.
G1018R (p.Gly1018Arg) variant details
- p.Gly1018Arg
- 1000Genomes rs533469199
- ExAC rs533469199
- TOPMed rs533469199
- gnomAD rs533469199
- Pathogenic/Likely pathogenic
- Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 1.03
- CADD 24.50
- 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