A265V (p.Ala265Val) variant of KCNQ2 (O43526)
A265V (p.Ala265Val) 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 0.86 / 1. The record also includes published literature and structural context.
A265V (p.Ala265Val) variant details
- p.Ala265Val
- rs587777219
- ClinGen CA150769
- cosmic curated COSV60431
- ClinVar RCV000106299
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Inborn genetic diseases; Seizures, benign familial neonatal
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.92
- PolyPhen-2 0.78
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Inborn genetic diseases; Seizures, benign f)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. (PMID 22926866)
- Cited in: Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. (PMID 23621294)