G1137D (p.Gly1137Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1137D (p.Gly1137Asp) 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; Benign familial hematuria. 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.
G1137D (p.Gly1137Asp) variant details
- p.Gly1137Asp
- rs869025327
- ClinGen CA352313
- ClinVar RCV000207687
- Ensembl rs869025327
- Pathogenic/Likely pathogenic
- Alport syndrome; Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.99
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alport syndrome; Benign familial hematuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available