D282H (p.Asp282His) variant of KCNQ2 (O43526)
D282H (p.Asp282His) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
D282H (p.Asp282His) variant details
- p.Asp282His
- rs796052636
- ClinGen CA409652684
- ClinVar RCV000494319
- ClinVar RCV003315349
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available