R85R (p.Arg85Arg) variant of ETFB (P38117)
R85R (p.Arg85Arg) in ETFB (P38117) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R85R (p.Arg85Arg) variant details
- p.Arg85Arg
- rs187424345
- gnomAD 19-51353254-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 18.60
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Literature evidence available