R40L (p.Arg40Leu) variant of KCNJ2 (P63252)
R40L (p.Arg40Leu) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- rs766143485
- ClinGen CA400859903
- ClinVar RCV003019194
- Uncertain significance
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.27
- AlphaMissense 0.20
- MetaLR 0.23
- MetaSVM -0.84
- CADD 23.70
- PolyPhen-2 0.05
- ClinVar: Uncertain significance (Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)