R57R (p.Arg57Arg) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
R57R (p.Arg57Arg) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R57R (p.Arg57Arg) variant details
- p.Arg57Arg
- rs139419148
- gnomAD 12-113058363-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0922
- CADD 1.63
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available