D45N (p.Asp45Asn) variant of APOC3 (Apolipoprotein C-III)
D45N (p.Asp45Asn) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- gnomAD 11-116830850-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.31
- CADD 18.80
- PolyPhen-2 0.16
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available