G1322C (p.Gly1322Cys) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1322C (p.Gly1322Cys) 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 dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G1322C (p.Gly1322Cys) variant details
- p.Gly1322Cys
- rs759739044
- ClinGen CA2147412
- ClinVar RCV003984949
- ClinVar RCV004787085
- Likely pathogenic
- Alport syndrome; Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.96
- AlphaMissense 0.59
- MetaLR 0.99
- MetaSVM 1.01
- CADD 28.50
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal dominant Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely 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)