Y44C (p.Tyr44Cys) variant of ABCG2 (Q9UNQ0)
Y44C (p.Tyr44Cys) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Y44C (p.Tyr44Cys) variant details
- p.Tyr44Cys
- TOPMed rs1337337886
- gnomAD rs1337337886
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.82
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available