V12L (p.Val12Leu) variant of APOC2 (Apolipoprotein C-II)
V12L (p.Val12Leu) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- 1000Genomes rs150887575
- ESP rs150887575
- ExAC rs150887575
- TOPMed rs150887575
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.16
- CADD 0.44
- PolyPhen-2 0.03
- SIFT 0.27
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available