V50L (p.Val50Leu) variant of APOC3 (Apolipoprotein C-III)
V50L (p.Val50Leu) in APOC3 (Apolipoprotein C-III) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- 1000Genomes rs201803883
- ExAC rs201803883
- TOPMed rs201803883
- gnomAD rs201803883
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.38
- CADD 16.10
- PolyPhen-2 0.53
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available