G792R (p.Gly792Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G792R (p.Gly792Arg) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G792R (p.Gly792Arg) variant details
- p.Gly792Arg
- rs768003309
- ClinGen CA2144827
- ClinVar RCV000672416
- ClinVar RCV003558516
- Pathogenic/Likely pathogenic
- not provided; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 0.97
- CADD 23.70
- 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
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)