R50P (p.Arg50Pro) variant of APOE (Apolipoprotein E)
R50P (p.Arg50Pro) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R50P (p.Arg50Pro) variant details
- p.Arg50Pro
- ExAC rs762461580
- TOPMed rs762461580
- gnomAD rs762461580
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.65
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available