I205V (p.Ile205Val) variant of KCNQ2 (O43526)
I205V (p.Ile205Val) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Seizures, benign familial neonatal, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
I205V (p.Ile205Val) variant details
- p.Ile205Val
- rs1057516087
- ClinGen CA10654824
- ClinVar RCV000678131
- ClinVar RCV002248637
- Pathogenic
- Seizures, benign familial neonatal, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 0.87
- MetaLR 0.90
- MetaSVM 1.01
- PolyPhen-2 0.15
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Seizures, benign familial neonatal, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)