G619R (p.Gly619Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G619R (p.Gly619Arg) 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 Benign familial hematuria; Autosomal dominant Alport syndrome; not provided. 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.
G619R (p.Gly619Arg) variant details
- p.Gly619Arg
- rs773515249
- ClinGen CA2146772
- ClinVar RCV000625624
- ClinVar RCV000681773
- Pathogenic/Likely pathogenic
- Benign familial hematuria; Autosomal dominant Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.90
- MetaLR 0.99
- MetaSVM 1.01
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Benign familial hematuria; Autosomal dominant Alport syndrome; n)
- 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)