Y75S (p.Tyr75Ser) variant of ABCG5 (Q9H222)
Y75S (p.Tyr75Ser) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Y75S (p.Tyr75Ser) variant details
- p.Tyr75Ser
- ExAC rs769363958
- TOPMed rs769363958
- gnomAD rs769363958
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 18.40
- PolyPhen-2 0.15
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available