Q24R (p.Gln24Arg) variant of ABCG8 (Q9H221)
Q24R (p.Gln24Arg) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- gnomAD rs1668679276
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.27
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available