I18V (p.Ile18Val) variant of KCNH2 (hERG)
I18V (p.Ile18Val) in KCNH2 (hERG) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- Ensembl rs1012070155
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.52
- AlphaMissense 0.59
- MetaLR 0.94
- MetaSVM 1.18
- CADD 23.50
- PolyPhen-2 0.00
- Most common in the 1KG:ACB population (allele frequency 0.011)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 80.3