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 0.76 / 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 0.758
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.54
- MetaLR 0.96
- MetaSVM 1.11
- CADD 29.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 138