H62H (p.His62His) variant of ANGPTL3 (Angiopoietin-related protein 3)
H62H (p.His62His) in ANGPTL3 (Angiopoietin-related protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H62H (p.His62His) variant details
- p.His62His
- gnomAD 1-62597752-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 7.58
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available