G378R (p.Gly378Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G378R (p.Gly378Arg) in COL4A3 (Collagen alpha-3(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, 2; Autosomal dominant Alport syndrome; Alport syndro. 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.
G378R (p.Gly378Arg) variant details
- p.Gly378Arg
- rs2125961933
- ClinGen CA350868617
- ClinVar RCV001967866
- ClinVar RCV003407985
- Pathogenic/Likely pathogenic
- Hematuria, benign familial, 2; Autosomal dominant Alport syndrome; Alport syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.75
- MetaLR 0.96
- MetaSVM 1.07
- CADD 33.00
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hematuria, benign familial, 2; Autosomal dominant Alport syndrom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)