R56W (p.Arg56Trp) variant of KCNB1 (Q14721)
R56W (p.Arg56Trp) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of KCNB1-related disorder; not provided.
R56W (p.Arg56Trp) variant details
- p.Arg56Trp
- rs2516924513
- ClinGen CA408951450
- ClinVar RCV004529830
- ClinVar RCV004698883
- Uncertain significance
- KCNB1-related disorder; not provided
- Missense
- ClinVar: Uncertain significance (KCNB1-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance