Q43R (p.Gln43Arg) variant of ABCG8 (Q9H221)
Q43R (p.Gln43Arg) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
Q43R (p.Gln43Arg) variant details
- p.Gln43Arg
- gnomAD rs1477765060
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.17
- CADD 0.34
- PolyPhen-2 0.06
- SIFT 0.32
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available