G1189E (p.Gly1189Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1189E (p.Gly1189Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G1189E (p.Gly1189Glu) variant details
- p.Gly1189Glu
- rs2106246658
- ClinGen CA350859884
- ClinVar RCV001921503
- Ensembl rs2106246658
- Pathogenic/Likely pathogenic
- Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.97
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alport syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available