A185S (p.Ala185Ser) variant of KCNQ2 (O43526)
A185S (p.Ala185Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A185S (p.Ala185Ser) variant details
- p.Ala185Ser
- rs1600786349
- ClinGen CA409654895
- cosmic curated COSV60439
- ClinVar RCV002510588
- Conflicting interpretations
- Early-infantile DEE; Developmental and epileptic encephalopathy, 7; Seizures, be
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.80
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Developmental and epileptic encephalopathy, 7; Ear)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)