M39I (p.Met39Ile) variant of ANGPTL3 (Angiopoietin-related protein 3)
M39I (p.Met39Ile) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
M39I (p.Met39Ile) variant details
- p.Met39Ile
- gnomAD rs1235689920
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.20
- CADD 24.10
- PolyPhen-2 0.47
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available