A18S (p.Ala18Ser) variant of ANGPTL4 (Angiopoietin-related protein 4)
A18S (p.Ala18Ser) in ANGPTL4 (Angiopoietin-related protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 19-8364373-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.12
- CADD 24.50
- PolyPhen-2 0.49
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available