V40G (p.Val40Gly) variant of APOC2 (Apolipoprotein C-II)
V40G (p.Val40Gly) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V40G (p.Val40Gly) variant details
- p.Val40Gly
- gnomAD 19-44948764-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.57
- CADD 23.90
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available