R6G (p.Arg6Gly) variant of KCNQ2 (O43526)
R6G (p.Arg6Gly) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. 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.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- rs2516747575
- ClinGen CA409636285
- ClinVar RCV006559878
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.41
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.08
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available