H96Y (p.His96Tyr) variant of KCNQ2 (O43526)
H96Y (p.His96Tyr) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. 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.
H96Y (p.His96Tyr) variant details
- p.His96Tyr
- rs2082232988
- ClinGen CA409634989
- ClinVar RCV006465210
- Ensembl rs2082232988
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.88
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available