D282N (p.Asp282Asn) variant of KCNQ2 (O43526)
D282N (p.Asp282Asn) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
D282N (p.Asp282Asn) variant details
- p.Asp282Asn
- rs796052636
- ClinGen CA315404
- ClinVar RCV000187881
- ClinVar RCV006461846
- Pathogenic/Likely pathogenic
- not provided; Early-infantile DEE
- 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 (not provided; Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available