H96R (p.His96Arg) variant of KCNQ2 (O43526)
H96R (p.His96Arg) in KCNQ2 (O43526) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
H96R (p.His96Arg) variant details
- p.His96Arg
- Ensembl rs868055567
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.90
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.05
- CADD 26.90
- PolyPhen-2 1.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available