K34R (p.Lys34Arg) variant of KCNJ2 (P63252)
K34R (p.Lys34Arg) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K34R (p.Lys34Arg) variant details
- p.Lys34Arg
- rs772815957
- ClinGen CA8738690
- ClinVar RCV000818687
- ExAC rs772815957
- Uncertain significance
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.46
- MetaLR 0.57
- MetaSVM 0.09
- CADD 22.60
- PolyPhen-2 0.34
- SIFT 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 South Asian population (allele frequency 5.8e-05)
- 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)