S113Y (p.Ser113Tyr) variant of KCNQ2 (O43526)
S113Y (p.Ser113Tyr) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
S113Y (p.Ser113Tyr) variant details
- p.Ser113Tyr
- rs1555874555
- ClinGen CA658658881
- ClinVar RCV000522683
- Ensembl rs1555874555
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available