Y114C (p.Tyr114Cys) variant of ABCB1 (ATP-dependent translocase ABCB1)
Y114C (p.Tyr114Cys) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Y114C (p.Tyr114Cys) variant details
- p.Tyr114Cys
- ESP rs374713722
- ExAC rs374713722
- TOPMed rs374713722
- gnomAD rs374713722
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available