A51T (p.Ala51Thr) variant of APOC2 (Apolipoprotein C-II)
A51T (p.Ala51Thr) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- gnomAD 19-44948796-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.78
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available