R71R (p.Arg71Arg) variant of TMC1 (Q8TDI8)
R71R (p.Arg71Arg) 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.
R71R (p.Arg71Arg) variant details
- p.Arg71Arg
- rs1826520697
- gnomAD 9-72694691-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 8.29
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available