R56R (p.Arg56Arg) variant of TMEM43 (Transmembrane protein 43)
R56R (p.Arg56Arg) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R56R (p.Arg56Arg) variant details
- p.Arg56Arg
- rs768752495
- gnomAD 3-14130827-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0798
- CADD 0.09
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available