R89L (p.Arg89Leu) variant of KCNQ2 (O43526)
R89L (p.Arg89Leu) 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; Seizures, benign familial neonatal, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R89L (p.Arg89Leu) variant details
- p.Arg89Leu
- rs2516743033
- ClinGen CA409635035
- ClinVar RCV006249844
- ClinVar RCV006560635
- Conflicting interpretations
- Early-infantile DEE; Seizures, benign familial neonatal, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.87
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; Seizures, benign familial neonatal, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)