R9S (p.Arg9Ser) variant of ABCG8 (Q9H221)
R9S (p.Arg9Ser) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- TOPMed rs984534218
- gnomAD rs984534218
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 4.63
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available