H55R (p.His55Arg) variant of ANGPTL3 (Angiopoietin-related protein 3)
H55R (p.His55Arg) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H55R (p.His55Arg) variant details
- p.His55Arg
- gnomAD 1-62597730-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.15
- CADD 21.10
- PolyPhen-2 0.14
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available