R18K (p.Arg18Lys) variant of ANGPTL3 (Angiopoietin-related protein 3)
R18K (p.Arg18Lys) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R18K (p.Arg18Lys) variant details
- p.Arg18Lys
- TOPMed rs1013469622
- gnomAD rs1013469622
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.07
- CADD 7.82
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available