I18V (p.Ile18Val) variant of KCNH2 (hERG)
I18V (p.Ile18Val) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- Ensembl rs1012070155
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.94
- MetaSVM 1.18
- CADD 25.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 80.3