I134N (p.Ile134Asn) variant of KCNQ2 (O43526)
I134N (p.Ile134Asn) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
I134N (p.Ile134Asn) variant details
- p.Ile134Asn
- rs2145779680
- ClinGen CA409655588
- ClinVar RCV002244274
- Ensembl rs2145779680
- Likely pathogenic
- Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 7)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)