L53V (p.Leu53Val) variant of ANGPTL3 (Angiopoietin-related protein 3)
L53V (p.Leu53Val) 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.
L53V (p.Leu53Val) variant details
- p.Leu53Val
- gnomAD 1-62597723-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.35
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available