G1091R (p.Gly1091Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G1091R (p.Gly1091Arg) 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 not provided; Alport syndrome. 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.
G1091R (p.Gly1091Arg) variant details
- p.Gly1091Arg
- rs1973129665
- ClinGen CA350838653
- ClinVar RCV001881665
- Ensembl rs1973129665
- Pathogenic/Likely pathogenic
- not provided; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 1.01
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available