R11R (p.Arg11Arg) variant of TMEM43 (Transmembrane protein 43)
R11R (p.Arg11Arg) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R11R (p.Arg11Arg) variant details
- p.Arg11Arg
- gnomAD 3-14129430-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 5.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available