S76R (p.Ser76Arg) variant of APOC2 (Apolipoprotein C-II)
S76R (p.Ser76Arg) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S76R (p.Ser76Arg) variant details
- p.Ser76Arg
- gnomAD 19-44949171-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.66
- CADD 23.90
- PolyPhen-2 0.85
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available