K120R (p.Lys120Arg) variant of KCNQ2 (O43526)
K120R (p.Lys120Arg) in KCNQ2 (O43526) 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.
K120R (p.Lys120Arg) variant details
- p.Lys120Arg
- rs2516533266
- ClinGen CA409656382
- ClinVar RCV003443400
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available