R560Q (p.Arg560Gln) variant of KCNQ2 (O43526)
R560Q (p.Arg560Gln) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-infantile DEE; not provided; Epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R560Q (p.Arg560Gln) variant details
- p.Arg560Gln
- rs1057517919
- ClinGen CA16043113
- cosmic curated COSV60556
- ClinVar RCV000413758
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Epilepsy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available