A9Q (p.Ala9Gln) variant of ANGPTL4 (Angiopoietin-related protein 4)
A9Q (p.Ala9Gln) in ANGPTL4 (Angiopoietin-related protein 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A9Q (p.Ala9Gln) variant details
- p.Ala9Gln
- gnomAD 19-8364342-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 14.80
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available