K58E (p.Lys58Glu) variant of ANGPTL3 (Angiopoietin-related protein 3)
K58E (p.Lys58Glu) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K58E (p.Lys58Glu) variant details
- p.Lys58Glu
- ExAC rs763781510
- gnomAD rs763781510
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.28
- CADD 25.40
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available