L46V (p.Leu46Val) variant of ANGPTL3 (Angiopoietin-related protein 3)
L46V (p.Leu46Val) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L46V (p.Leu46Val) variant details
- p.Leu46Val
- gnomAD 1-62597702-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.71
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available