R79Q (p.Arg79Gln) variant of KCNQ3 (O43525)
R79Q (p.Arg79Gln) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R79Q (p.Arg79Gln) variant details
- p.Arg79Gln
- rs778442808
- ClinGen CA4880991
- ClinVar RCV001961716
- ExAC rs778442808
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.38
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available