R46H (p.Arg46His) variant of CUL3 (Cullin-3)
R46H (p.Arg46His) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Pseudohypoaldosteronism type 2E; Neurodevelopmental disorder with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R46H (p.Arg46His) variant details
- p.Arg46His
- rs190453078
- ClinGen CA2140260
- ClinVar RCV002598952
- ClinVar RCV005028243
- Conflicting interpretations
- not specified; Pseudohypoaldosteronism type 2E; Neurodevelopmental disorder with
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.24
- CADD 24.40
- PolyPhen-2 0.84
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (not specified; Pseudohypoaldosteronism type 2E; Neurodevelopment)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Pseudohypoaldosteronism Type II. (PMID 22073419)