A265G (p.Ala265Gly) variant of KCNQ2 (O43526)
A265G (p.Ala265Gly) 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; Inborn genetic diseases; Seizures, benign familial neonatal. 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.
A265G (p.Ala265Gly) variant details
- p.Ala265Gly
- Ensembl rs587777219
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Inborn genetic diseases; Seizures, benign familial neonatal
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.75
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.92
- CADD 24.60
- PolyPhen-2 0.78
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Inborn genetic diseases; Seizures, benign f)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available