D413G (p.Asp413Gly) variant of CUL3 (Cullin-3)
D413G (p.Asp413Gly) 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; Pseudohypoaldosteronism type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
D413G (p.Asp413Gly) variant details
- p.Asp413Gly
- rs199469656
- ClinGen CA129109
- ClinVar RCV000023258
- ClinVar RCV000128493
- Pathogenic
- Pseudohypoaldosteronism type 2E; Pseudohypoaldosteronism type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 0.95
- MetaLR 0.67
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Pseudohypoaldosteronism type 2E; Pseudohypoaldosteronism type 2A)
- EBI: Pathogenic (in PHA2E)
- UniProt: Pathogenic (in PHA2E)
- Structural context available
- Cited in: Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. (PMID 22266938)
- Cited in: Pseudohypoaldosteronism Type II. (PMID 22073419)