R214Q (p.Arg214Gln) variant of KCNQ2 (O43526)
R214Q (p.Arg214Gln) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Early-infantile DEE; KCNQ2-Related Disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R214Q (p.Arg214Gln) variant details
- p.Arg214Gln
- rs1057518555
- ClinGen CA409654734
- cosmic curated COSV10741
- ClinVar RCV003987673
- Pathogenic
- Inborn genetic diseases; Early-infantile DEE; KCNQ2-Related Disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.74
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 0.95
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Inborn genetic diseases; Early-infantile DEE; KCNQ2-Related Diso)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- Population evidence available
- 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)