K19Q (p.Lys19Gln) variant of KCNQ2 (O43526)
K19Q (p.Lys19Gln) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K19Q (p.Lys19Gln) variant details
- p.Lys19Gln
- rs2516746732
- ClinGen CA409636043
- ClinVar RCV002344871
- ClinVar RCV006559064
- Uncertain significance
- Early-infantile DEE; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.54
- CADD 25.90
- PolyPhen-2 0.47
- SIFT 0.01
- ClinVar: Uncertain significance (Early-infantile DEE; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)