R67W (p.Arg67Trp) variant of KCNJ2 (P63252)
R67W (p.Arg67Trp) in KCNJ2 (P63252) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LQT7. 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.
R67W (p.Arg67Trp) variant details
- p.Arg67Trp
- rs104894580
- ClinGen CA302015
- cosmic curated COSV54660
- ClinVar RCV000009478
- Pathogenic
- in LQT7
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.94
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in LQT7)
- UniProt: Pathogenic (in LQT7)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Gender differences in arrhythmias. (PMID 11841151)
- Cited in: Sex, hormones, and repolarization. (PMID 11861044)