G759R (p.Gly759Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G759R (p.Gly759Arg) 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 Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G759R (p.Gly759Arg) variant details
- p.Gly759Arg
- rs2071886531
- ClinGen CA350849081
- ClinVar RCV003143639
- TOPMed rs2071886531
- Likely pathogenic
- Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.97
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)