Y83H (p.Tyr83His) variant of ANGPTL3 (Angiopoietin-related protein 3)
Y83H (p.Tyr83His) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Y83H (p.Tyr83His) variant details
- p.Tyr83His
- gnomAD rs1649497318
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.30
- CADD 23.20
- PolyPhen-2 0.87
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available