Y127D (p.Tyr127Asp) variant of KCNQ2 (O43526)
Y127D (p.Tyr127Asp) 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.
Y127D (p.Tyr127Asp) variant details
- p.Tyr127Asp
- rs2516532723
- ClinGen CA409656317
- ClinVar RCV003440505
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available