D27H (p.Asp27His) variant of ANGPTL3 (Angiopoietin-related protein 3)
D27H (p.Asp27His) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D27H (p.Asp27His) variant details
- p.Asp27His
- Ensembl rs1649459413
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.21
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available