Y75C (p.Tyr75Cys) variant of ABCG5 (Q9H222)
Y75C (p.Tyr75Cys) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Y75C (p.Tyr75Cys) variant details
- p.Tyr75Cys
- ExAC rs769363958
- TOPMed rs769363958
- gnomAD rs769363958
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 23.70
- PolyPhen-2 0.63
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available