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 available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes experimental measurements and structural context.
R56G (p.Arg56Gly) variant details
- p.Arg56Gly
- TOPMed rs1801937245
- Likely benign
- in LQT2
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- EBI: Likely benign (in LQT2)
- UniProt: Likely benign (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 31.6