D110N (p.Asp110Asn) variant of ABCB1 (ATP-dependent translocase ABCB1)
D110N (p.Asp110Asn) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
D110N (p.Asp110Asn) variant details
- p.Asp110Asn
- ExAC rs769142496
- TOPMed rs769142496
- gnomAD rs769142496
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0523
- CADD 0.47
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available