L85R (p.Leu85Arg) variant of ABCG5 (Q9H222)
L85R (p.Leu85Arg) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L85R (p.Leu85Arg) variant details
- p.Leu85Arg
- TOPMed rs1668377745
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.75
- CADD 24.60
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available