R50S (p.Arg50Ser) variant of APOE (Apolipoprotein E)
R50S (p.Arg50Ser) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R50S (p.Arg50Ser) variant details
- p.Arg50Ser
- rs11542029
- ClinGen CA406303398
- ClinVar RCV000520712
- ExAC rs11542029
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.50
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available