E32K (p.Glu32Lys) variant of ANGPTL3 (Angiopoietin-related protein 3)
E32K (p.Glu32Lys) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- ExAC rs746416387
- TOPMed rs746416387
- gnomAD rs746416387
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.21
- CADD 23.60
- PolyPhen-2 0.25
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available