G868R (p.Gly868Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G868R (p.Gly868Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hematuria, benign familial, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G868R (p.Gly868Arg) variant details
- p.Gly868Arg
- rs2106164384
- ClinGen CA350850579
- ClinVar RCV001901395
- ClinVar RCV005016798
- Likely pathogenic
- Hematuria, benign familial, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.94
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hematuria, benign familial, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)