L28P (p.Leu28Pro) variant of APOC3 (Apolipoprotein C-III)
L28P (p.Leu28Pro) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- gnomAD 11-116830800-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.64
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available