I85L (p.Ile85Leu) variant of KCNQ3 (O43525)
I85L (p.Ile85Leu) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
I85L (p.Ile85Leu) variant details
- p.Ile85Leu
- rs969479579
- ClinGen CA372292594
- ClinVar RCV001257258
- Ensembl rs969479579
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.11
- MetaLR 0.78
- MetaSVM 0.37
- PolyPhen-2 0.01
- SIFT 0.63
- MutPred 0.28
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available