F18C (p.Phe18Cys) variant of APOC2 (Apolipoprotein C-II)
F18C (p.Phe18Cys) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
F18C (p.Phe18Cys) variant details
- p.Phe18Cys
- cosmic curated COSV52991
- ExAC rs757247241
- gnomAD rs757247241
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.12
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available