V36G (p.Val36Gly) variant of KCNH2 (hERG)
V36G (p.Val36Gly) in KCNH2 (hERG) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V36G (p.Val36Gly) variant details
- p.Val36Gly
- TOPMed rs1427593456
- gnomAD rs1427593456
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.76
- CADD 29.90
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 138