H96N (p.His96Asn) variant of KCNQ2 (O43526)
H96N (p.His96Asn) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
H96N (p.His96Asn) variant details
- p.His96Asn
- rs2082232988
- ClinGen CA409634991
- ClinVar RCV001252031
- Ensembl rs2082232988
- Pathogenic
- Developmental and epileptic encephalopathy, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.89
- CADD 28.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available