N91D (p.Asn91Asp) variant of ABCB1 (ATP-dependent translocase ABCB1)
N91D (p.Asn91Asp) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign; drug response in the context of Tramadol response; ABCB1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N91D (p.Asn91Asp) variant details
- p.Asn91Asp
- TOPMed rs1311363553
- gnomAD rs1311363553
- Likely benign; drug response
- Tramadol response; ABCB1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 9.33
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Likely benign; drug response (Tramadol response; ABCB1-related disorder)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available