S57S (p.Ser57Ser) variant of KCNJ5 (P48544)
S57S (p.Ser57Ser) in KCNJ5 (P48544) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S57S (p.Ser57Ser) variant details
- p.Ser57Ser
- rs6590357
- gnomAD 11-128911444-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 3.67
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Cited in: Towards Understanding the Genetic Nature of Vasovagal Syncope. (PMID 34638656)
- Cited in: Common variants predict recurrence after nonfamilial atrial fibrillation ablation in Chinese Han population. (PMID 27843048)