I71V (p.Ile71Val) variant of ANGPTL3 (Angiopoietin-related protein 3)
I71V (p.Ile71Val) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I71V (p.Ile71Val) variant details
- p.Ile71Val
- gnomAD 1-62597777-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.34
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available