L48V (p.Leu48Val) variant of APOE (Apolipoprotein E)
L48V (p.Leu48Val) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- gnomAD rs1439276876
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.17
- CADD 2.32
- PolyPhen-2 0.07
- SIFT 0.42
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available