R560W (p.Arg560Trp) variant of KCNQ2 (O43526)
R560W (p.Arg560Trp) 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; Neurodevelopmental disorder; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R560W (p.Arg560Trp) variant details
- p.Arg560Trp
- rs773171451
- ClinGen CA315471
- ClinVar RCV000187915
- ClinVar RCV000678188
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Neurodevelopmental disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.91
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Neurodevelopmental disorder; Inborn genetic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)