K459R (p.Lys459Arg) variant of CUL3 (Cullin-3)
K459R (p.Lys459Arg) 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 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
K459R (p.Lys459Arg) variant details
- p.Lys459Arg
- rs199469658
- ClinGen CA269962
- ClinVar RCV000128494
- UniProt VAR 067533
- Pathogenic
- Pseudohypoaldosteronism type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.80
- CADD 33.00
- PolyPhen-2 0.39
- SIFT 0.09
- ClinVar: Pathogenic (Pseudohypoaldosteronism type 2A)
- EBI: Pathogenic (in PHA2E)
- UniProt: Pathogenic (in PHA2E)
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)