I4V (p.Ile4Val) variant of ANGPTL3 (Angiopoietin-related protein 3)
I4V (p.Ile4Val) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- ExAC rs760521061
- gnomAD rs760521061
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.03
- CADD 8.36
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available