Y47H (p.Tyr47His) variant of APOC2 (Apolipoprotein C-II)
Y47H (p.Tyr47His) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y47H (p.Tyr47His) variant details
- p.Tyr47His
- gnomAD 19-44948784-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.83
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available