H62R (p.His62Arg) variant of ANGPTL3 (Angiopoietin-related protein 3)
H62R (p.His62Arg) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H62R (p.His62Arg) variant details
- p.His62Arg
- TOPMed rs1356877257
- gnomAD rs1356877257
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.23
- CADD 23.30
- PolyPhen-2 0.88
- SIFT 0.06
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available