V41G (p.Val41Gly) variant of KCNH2 (hERG)
V41G (p.Val41Gly) in KCNH2 (hERG) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LQT2. The record also includes experimental measurements and structural context.
V41G (p.Val41Gly) variant details
- p.Val41Gly
- Ensembl rs731506
- Uncertain significance
- in LQT2
- Missense
- EBI: uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0