A38V (p.Ala38Val) variant of ANGPTL3 (Angiopoietin-related protein 3)
A38V (p.Ala38Val) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- TOPMed rs1267929323
- gnomAD rs1267929323
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.47
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available