P5L (p.Pro5Leu) variant of ANGPTL4 (Angiopoietin-related protein 4)
P5L (p.Pro5Leu) in ANGPTL4 (Angiopoietin-related protein 4) 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, published literature, and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- rs761583091
- UniProt VAR 032642
- ExAC rs761583091
- TOPMed rs761583091
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.15
- CADD 19.00
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. (PMID 17322881)