G183C (p.Gly183Cys) variant of COL4A3 (Collagen alpha-3(IV) chain)
G183C (p.Gly183Cys) 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 Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G183C (p.Gly183Cys) variant details
- p.Gly183Cys
- rs2069716520
- ClinGen CA350863674
- ClinVar RCV001281282
- Ensembl rs2069716520
- Likely pathogenic
- Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.69
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Autosomal recessive Alport s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)