L85V (p.Leu85Val) variant of ABCG5 (Q9H222)
L85V (p.Leu85Val) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L85V (p.Leu85Val) variant details
- p.Leu85Val
- TOPMed rs1668377892
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.68
- CADD 5.82
- PolyPhen-2 0.26
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available