R73R (p.Arg73Arg) variant of TMC1 (Q8TDI8)
R73R (p.Arg73Arg) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R73R (p.Arg73Arg) variant details
- p.Arg73Arg
- gnomAD 9-72694697-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 11.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available