V14A (p.Val14Ala) variant of ANGPTL3 (Angiopoietin-related protein 3)
V14A (p.Val14Ala) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- gnomAD 1-62597607-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.07
- CADD 18.20
- PolyPhen-2 0.09
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Literature evidence available