Y58C (p.Tyr58Cys) variant of CUL3 (Cullin-3)
Y58C (p.Tyr58Cys) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal dominant pseudohypoaldosteronism type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Y58C (p.Tyr58Cys) variant details
- p.Tyr58Cys
- rs1553535841
- ClinGen CA351130799
- ClinVar RCV000677281
- ClinVar RCV000987041
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant pseudohypoaldosteronism type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.87
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant pseudohypoaldosteronism type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by… (PMID 30311385)