R26R (p.Arg26Arg) variant of ABCG8 (Q9H221)
R26R (p.Arg26Arg) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R26R (p.Arg26Arg) variant details
- p.Arg26Arg
- gnomAD 2-43844521-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 9.53
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available