K6R (p.Lys6Arg) variant of CUL3 (Cullin-3)
K6R (p.Lys6Arg) 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 0.23 / 1. The record also includes population frequency data and structural context.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- rs757582263
- ClinGen CA2140349
- ClinVar RCV002467086
- ExAC rs757582263
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.08
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available