R9* (p.Arg9Ter) variant of ABCG8 (Q9H221)
R9* (p.Arg9Ter) in ABCG8 (Q9H221) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R9* (p.Arg9Ter) variant details
- p.Arg9Ter
- rs1668020665
- gnomAD 2-43832611-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 24.60
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- Literature evidence available