L50R (p.Leu50Arg) variant of ANGPTL3 (Angiopoietin-related protein 3)
L50R (p.Leu50Arg) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L50R (p.Leu50Arg) variant details
- p.Leu50Arg
- ESP rs151064896
- ExAC rs151064896
- TOPMed rs151064896
- gnomAD rs151064896
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.53
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available