R36K (p.Arg36Lys) variant of ANGPTL3 (Angiopoietin-related protein 3)
R36K (p.Arg36Lys) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R36K (p.Arg36Lys) variant details
- p.Arg36Lys
- Ensembl rs2149525229
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.33
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available