K2R (p.Lys2Arg) variant of APOE (Apolipoprotein E)
K2R (p.Lys2Arg) in APOE (Apolipoprotein E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
K2R (p.Lys2Arg) variant details
- p.Lys2Arg
- gnomAD 19-44906627-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.814
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available