A185T (p.Ala185Thr) variant of KCNQ2 (O43526)
A185T (p.Ala185Thr) 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; Developmental and epileptic encephalopathy, 7; Seizures, be. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A185T (p.Ala185Thr) variant details
- p.Ala185Thr
- rs1600786349
- ClinGen CA409654897
- NCI-TCGA Cosmic COSV6043
- cosmic curated COSV60438
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Developmental and epileptic encephalopathy, 7; Seizures, be
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.82
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Developmental and epileptic encephalopathy,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)