G65R (p.Gly65Arg) variant of KCNQ3 (O43525)
G65R (p.Gly65Arg) 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 0.71 / 1. The record also includes population frequency data and structural context.
G65R (p.Gly65Arg) variant details
- p.Gly65Arg
- rs549681789
- ClinGen CA4881002
- ClinVar RCV001359209
- 1000Genomes rs549681789
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.76
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available