R333Q (p.Arg333Gln) variant of KCNQ2 (O43526)
R333Q (p.Arg333Gln) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; not provided; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R333Q (p.Arg333Gln) variant details
- p.Arg333Gln
- rs118192216
- ClinGen CA342542
- ClinVar RCV000413623
- ClinVar RCV000678102
- Pathogenic
- Early-infantile DEE; not provided; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.90
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Early-infantile DEE; not provided; Seizure)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and… (PMID 14534157)
- Cited in: Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. (PMID 11175290)