S76I (p.Ser76Ile) variant of APOC2 (Apolipoprotein C-II)
S76I (p.Ser76Ile) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S76I (p.Ser76Ile) variant details
- p.Ser76Ile
- gnomAD 19-44949170-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.60
- CADD 22.20
- PolyPhen-2 0.80
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available