E30V (p.Glu30Val) variant of APOC2 (Apolipoprotein C-II)
E30V (p.Glu30Val) in APOC2 (Apolipoprotein C-II) 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.
E30V (p.Glu30Val) variant details
- p.Glu30Val
- gnomAD 19-44948734-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.25
- CADD 24.60
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available