G24R (p.Gly24Arg) variant of KCNQ3 (O43525)
G24R (p.Gly24Arg) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Seizures, benign familial neonatal, 2; Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- rs1822526218
- ClinGen CA372292956
- ClinVar RCV001372159
- ClinVar RCV005040229
- Uncertain significance
- Seizures, benign familial neonatal, 2; Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.43
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Seizures, benign familial neonatal, 2; Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: KCNQ3-Related Disorders. (PMID 24851285)