R50R (p.Arg50Arg) variant of APOE (Apolipoprotein E)
R50R (p.Arg50Arg) in APOE (Apolipoprotein E) 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.
R50R (p.Arg50Arg) variant details
- p.Arg50Arg
- rs11542031
- gnomAD 19-44907866-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 9.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available