R50C (p.Arg50Cys) variant of APOE (Apolipoprotein E)
R50C (p.Arg50Cys) 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 0.66 / 1. The record also includes population frequency data and structural context.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- ExAC rs11542029
- TOPMed rs11542029
- gnomAD rs11542029
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.56
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available