T3A (p.Thr3Ala) variant of APOC2 (Apolipoprotein C-II)
T3A (p.Thr3Ala) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- gnomAD 19-44948485-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.14
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available