G783R (p.Gly783Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G783R (p.Gly783Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Alport syndrome; Autosomal dominant 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.
G783R (p.Gly783Arg) variant details
- p.Gly783Arg
- TOPMed rs1310041969
- gnomAD rs1310041969
- Likely pathogenic
- Alport syndrome; Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.99
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal dominant Alport syndrome)
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available