Y42C (p.Tyr42Cys) variant of ABCB1 (ATP-dependent translocase ABCB1)
Y42C (p.Tyr42Cys) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Y42C (p.Tyr42Cys) variant details
- p.Tyr42Cys
- TOPMed rs201564736
- gnomAD rs201564736
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available