G123V (p.Gly123Val) variant of KCNB1 (Q14721)
G123V (p.Gly123Val) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
G123V (p.Gly123Val) variant details
- p.Gly123Val
- rs2516924256
- ClinGen CA408949917
- ClinVar RCV002281363
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance