K15R (p.Lys15Arg) variant of CUL3 (Cullin-3)
K15R (p.Lys15Arg) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K15R (p.Lys15Arg) variant details
- p.Lys15Arg
- rs1335865703
- ClinGen CA351131121
- ClinVar RCV003080110
- TOPMed rs1335865703
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.08
- CADD 22.30
- PolyPhen-2 0.19
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available