R50G (p.Arg50Gly) variant of APOE (Apolipoprotein E)
R50G (p.Arg50Gly) in APOE (Apolipoprotein E) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R50G (p.Arg50Gly) variant details
- p.Arg50Gly
- ExAC rs11542029
- TOPMed rs11542029
- gnomAD rs11542029
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.53
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available