D68H (p.Asp68His) variant of APOC2 (Apolipoprotein C-II)
D68H (p.Asp68His) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D68H (p.Asp68His) variant details
- p.Asp68His
- gnomAD 19-44948847-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.54
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available