R6H (p.Arg6His) variant of KCNQ3 (O43525)
R6H (p.Arg6His) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Benign neonatal seizures; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- TOPMed rs1382518994
- gnomAD rs1382518994
- Uncertain significance
- Benign neonatal seizures; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.42
- CADD 24.40
- PolyPhen-2 0.51
- SIFT 0.00
- ClinVar: Uncertain significance (Benign neonatal seizures; not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-06)
- Structural context available