G183D (p.Gly183Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
G183D (p.Gly183Asp) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G183D (p.Gly183Asp) variant details
- p.Gly183Asp
- ExAC rs775544184
- TOPMed rs775544184
- gnomAD rs775544184
- Uncertain significance
- Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal dominant Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available