R56G (p.Arg56Gly) variant of KCNH2 (hERG)
R56G (p.Arg56Gly) in KCNH2 (hERG) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in LQT2. The record also includes experimental measurements and structural context.
R56G (p.Arg56Gly) variant details
- p.Arg56Gly
- TOPMed rs1801937245
- Likely benign
- in LQT2
- Missense
- EBI: Likely benign (in LQT2)
- UniProt: Likely benign (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 31.6