D266G (p.Asp266Gly) variant of KCNQ2 (O43526)
D266G (p.Asp266Gly) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
D266G (p.Asp266Gly) variant details
- p.Asp266Gly
- rs2081187692
- ClinGen CA409653386
- ClinVar RCV003128743
- ClinVar RCV006465176
- Pathogenic
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (not provided; Early-infantile DEE)
- EBI: Pathogenic (in DEE7)
- UniProt: Pathogenic (in DEE7)
- Structural context available