R41G (p.Arg41Gly) variant of KCNQ3 (O43525)
R41G (p.Arg41Gly) 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 0.47 / 1. The record also includes population frequency data and structural context.
R41G (p.Arg41Gly) variant details
- p.Arg41Gly
- rs568033682
- ClinGen CA4881020
- ClinVar RCV003747994
- 1000Genomes rs568033682
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.43
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available