R67Q (p.Arg67Gln) variant of KCNJ2 (P63252)
R67Q (p.Arg67Gln) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R67Q (p.Arg67Gln) variant details
- p.Arg67Gln
- rs199473368
- ClinGen CA302017
- NCI-TCGA Cosmic COSV5466
- cosmic curated COSV54662
- Pathogenic/Likely pathogenic
- not provided; Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 0.36
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic/Likely pathogenic (not provided; Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Pathogenic (in LQT7)
- UniProt: Pathogenic (in LQT7)
- Population evidence available
- 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)