V12I (p.Val12Ile) variant of APOC2 (Apolipoprotein C-II)
V12I (p.Val12Ile) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- rs150887575
- ClinGen CA9506574
- cosmic curated COSV10608
- ClinVar RCV002092153
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0803
- REVEL 0.09
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available