V14D (p.Val14Asp) variant of ANGPTL3 (Angiopoietin-related protein 3)
V14D (p.Val14Asp) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V14D (p.Val14Asp) variant details
- p.Val14Asp
- gnomAD 1-62597607-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.31
- CADD 24.60
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available