R33K (p.Arg33Lys) variant of APOE (Apolipoprotein E)
R33K (p.Arg33Lys) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R33K (p.Arg33Lys) variant details
- p.Arg33Lys
- rs1246551383
- gnomAD 19-44905888-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- CADD 4.90
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available