A265T (p.Ala265Thr) variant of KCNQ2 (O43526)
A265T (p.Ala265Thr) 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; not provided; Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A265T (p.Ala265Thr) variant details
- p.Ala265Thr
- rs794727740
- ClinGen CA278513
- cosmic curated COSV10523
- ClinVar RCV000179032
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.84
- AlphaMissense 0.97
- MetaLR 0.88
- MetaSVM 0.95
- CADD 23.80
- PolyPhen-2 0.18
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Developmental and epileptic e)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)