A265P (p.Ala265Pro) variant of KCNQ2 (O43526)
A265P (p.Ala265Pro) in KCNQ2 (O43526) is a missense change. The available record places it 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 0.82 / 1. The record also includes published literature and structural context.
A265P (p.Ala265Pro) variant details
- p.Ala265Pro
- rs794727740
- ClinGen CA10654817
- ClinVar RCV000678139
- gnomAD rs794727740
- not provided
- Early-infantile DEE; Inborn genetic diseases; Seizures, benign familial neonatal
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.97
- MetaLR 0.88
- MetaSVM 0.95
- PolyPhen-2 0.18
- SIFT 0.00
- EVE 0.70
- ClinVar: not provided (Developmental and epileptic encephalopathy, 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)