D42D (p.Asp42Asp) variant of ANGPTL3 (Angiopoietin-related protein 3)
D42D (p.Asp42Asp) in ANGPTL3 (Angiopoietin-related protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D42D (p.Asp42Asp) variant details
- p.Asp42Asp
- rs147500008
- gnomAD 1-62597692-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 8.34
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available