R9K (p.Arg9Lys) variant of ABCG8 (Q9H221)
R9K (p.Arg9Lys) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R9K (p.Arg9Lys) variant details
- p.Arg9Lys
- TOPMed rs954078225
- gnomAD rs954078225
- Missense
- Variant Prioritization Score for Impact Estimate 0.0989
- REVEL 0.11
- CADD 0.35
- PolyPhen-2 0.00
- SIFT 0.96
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available