R67R (p.Arg67Arg) variant of KCNJ2 (P63252)
R67R (p.Arg67Arg) in KCNJ2 (P63252) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R67R (p.Arg67Arg) variant details
- p.Arg67Arg
- rs104894580
- gnomAD 17-70175238-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Paralogous annotation of disease-causing variants in long QT syndrome genes. (PMID 22581653)
- Cited in: Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. (PMID 17221872)