V24L (p.Val24Leu) variant of APOE (Apolipoprotein E)
V24L (p.Val24Leu) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar 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 0.20 / 1. The record also includes population frequency data and structural context.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- TOPMed rs1394832846
- gnomAD rs1394832846
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.30
- CADD 0.52
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available