C1616Y (p.Cys1616Tyr) variant of COL4A3 (Collagen alpha-3(IV) chain)
C1616Y (p.Cys1616Tyr) 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; Autosomal dominant Alport syndrome; Hematuria, benign familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
C1616Y (p.Cys1616Tyr) variant details
- p.Cys1616Tyr
- TOPMed rs1202018331
- gnomAD rs1202018331
- Pathogenic/Likely pathogenic
- Alport syndrome; Autosomal dominant Alport syndrome; Hematuria, benign familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.98
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alport syndrome; Autosomal dominant Alport syndrome; Hematuria,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available