H55N (p.His55Asn) variant of ANGPTL3 (Angiopoietin-related protein 3)
H55N (p.His55Asn) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H55N (p.His55Asn) variant details
- p.His55Asn
- gnomAD 1-62597729-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.21
- CADD 23.70
- PolyPhen-2 0.63
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available