R4K (p.Arg4Lys) variant of POLE (Q07864)
R4K (p.Arg4Lys) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
R4K (p.Arg4Lys) variant details
- p.Arg4Lys
- rs2542222395
- ClinGen CA387373540
- ClinVar RCV003658125
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available