I45V (p.Ile45Val) variant of ANGPTL3 (Angiopoietin-related protein 3)
I45V (p.Ile45Val) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I45V (p.Ile45Val) variant details
- p.Ile45Val
- TOPMed rs1032082501
- gnomAD rs1032082501
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.15
- CADD 19.00
- PolyPhen-2 0.36
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available