G21R (p.Gly21Arg) variant of KCNQ3 (O43525)
G21R (p.Gly21Arg) 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 0.57 / 1. The record also includes population frequency data and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs1822526871
- ClinGen CA372292974
- ClinVar RCV001039910
- Ensembl rs1822526871
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.49
- CADD 23.90
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available