A306V (p.Ala306Val) variant of KCNQ2 (O43526)
A306V (p.Ala306Val) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; Seizures, benign familial neonatal, 1; Developmental and ep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A306V (p.Ala306Val) variant details
- p.Ala306Val
- rs864321707
- ClinGen CA347954
- NCI-TCGA Cosmic COSV6043
- cosmic curated COSV60436
- Pathogenic
- Early-infantile DEE; Seizures, benign familial neonatal, 1; Developmental and ep
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.90
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.60
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Early-infantile DEE; Seizures, benign familial neonatal, 1; Deve)
- EBI: Pathogenic (in BFNS1 and DEE7)
- UniProt: Pathogenic (in BFNS1 and DEE7)
- Population evidence available
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)