N23R (p.Asn23Arg) variant of ANGPTL3 (Angiopoietin-related protein 3)
N23R (p.Asn23Arg) in ANGPTL3 (Angiopoietin-related protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N23R (p.Asn23Arg) variant details
- p.Asn23Arg
- rs779437563
- gnomAD 1-62597633-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.209
- CADD 18.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available