I209S (p.Ile209Ser) variant of KCNQ2 (O43526)
I209S (p.Ile209Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 7; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
I209S (p.Ile209Ser) variant details
- p.Ile209Ser
- rs1600785769
- ClinGen CA409654756
- ClinVar RCV006558155
- Ensembl rs1600785769
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 7; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 0.94
- PolyPhen-2 0.91
- SIFT 0.00
- EVE 0.22
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 7; Early-infantile D)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available