A214G (p.Ala214Gly) variant of CUL3 (Cullin-3)
A214G (p.Ala214Gly) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudohypoaldosteronism type 2E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A214G (p.Ala214Gly) variant details
- p.Ala214Gly
- rs1692920727
- ClinGen CA350831110
- ClinVar RCV001253061
- Ensembl rs1692920727
- Pathogenic
- Pseudohypoaldosteronism type 2E
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.36
- CADD 24.70
- PolyPhen-2 0.44
- SIFT 0.01
- ClinVar: Pathogenic (Pseudohypoaldosteronism type 2E)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Pseudohypoaldosteronism Type II. (PMID 22073419)