D19R (p.Asp19Arg) variant of ABCG8 (Q9H221)
D19R (p.Asp19Arg) in ABCG8 (Q9H221) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D19R (p.Asp19Arg) variant details
- p.Asp19Arg
- gnomAD 2-43839107-GGATAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 23.90
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available