Y50C (p.Tyr50Cys) variant of ABCB1 (ATP-dependent translocase ABCB1)
Y50C (p.Tyr50Cys) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Y50C (p.Tyr50Cys) variant details
- p.Tyr50Cys
- 1000Genomes rs537546318
- ExAC rs537546318
- TOPMed rs537546318
- gnomAD rs537546318
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available