L53W (p.Leu53Trp) variant of ANGPTL3 (Angiopoietin-related protein 3)
L53W (p.Leu53Trp) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L53W (p.Leu53Trp) variant details
- p.Leu53Trp
- ExAC rs765123937
- gnomAD rs765123937
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.63
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available