G922R (p.Gly922Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G922R (p.Gly922Arg) 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; Autosomal recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G922R (p.Gly922Arg) variant details
- p.Gly922Arg
- rs1405970656
- ClinGen CA350851705
- ClinVar RCV003486512
- TOPMed rs1405970656
- Likely pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.99
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal recessive Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)