P12L (p.Pro12Leu) variant of ANGPTL3 (Angiopoietin-related protein 3)
P12L (p.Pro12Leu) in ANGPTL3 (Angiopoietin-related protein 3) 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 and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- gnomAD rs1216052225
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.10
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available