S229I (p.Ser229Ile) variant of KCNQ2 (O43526)
S229I (p.Ser229Ile) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of KCNQ2-Related Disorders; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
S229I (p.Ser229Ile) variant details
- p.Ser229Ile
- rs2145774465
- ClinGen CA409654644
- ClinVar RCV005250219
- ClinVar RCV006468573
- Pathogenic/Likely pathogenic
- KCNQ2-Related Disorders; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.91
- CADD 27.20
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (KCNQ2-Related Disorders; Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available