I317M (p.Ile317Met) variant of KCNQ3 (O43525)
I317M (p.Ile317Met) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
I317M (p.Ile317Met) variant details
- p.Ile317Met
- rs2130128566
- ClinGen CA372290243
- ClinVar RCV001966051
- Ensembl rs2130128566
- Likely pathogenic
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 0.81
- MetaLR 0.94
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Benign neonatal seizures)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available