R40Q (p.Arg40Gln) variant of KCNJ2 (P63252)
R40Q (p.Arg40Gln) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Andersen Tawil syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- rs766143485
- ClinGen CA8738692
- ClinVar RCV000308982
- ClinVar RCV000347359
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.20
- AlphaMissense 0.20
- MetaLR 0.23
- MetaSVM -0.84
- CADD 22.80
- PolyPhen-2 0.05
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Andersen Tawil syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)