G864R (p.Gly864Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G864R (p.Gly864Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G864R (p.Gly864Arg) variant details
- p.Gly864Arg
- rs937550597
- ClinGen CA66585193
- ClinVar RCV000665368
- ClinVar RCV001855440
- Pathogenic
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.99
- MetaLR 0.98
- MetaSVM 1.05
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Focal segmental glomerulosclerosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)