R50L (p.Arg50Leu) variant of APOE (Apolipoprotein E)
R50L (p.Arg50Leu) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R50L (p.Arg50Leu) variant details
- p.Arg50Leu
- ExAC rs762461580
- TOPMed rs762461580
- gnomAD rs762461580
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.54
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available