N84H (p.Asn84His) variant of ABCB1 (ATP-dependent translocase ABCB1)
N84H (p.Asn84His) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as drug response in the context of Tramadol response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N84H (p.Asn84His) variant details
- p.Asn84His
- rs764061195
- ClinGen CA4328652
- cosmic curated COSV55960
- ClinVar RCV001029295
- drug response
- Tramadol response
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 8.14
- PolyPhen-2 0.22
- SIFT 0.11
- ClinVar: drug response (Tramadol response)
- EBI: Drug response
- UniProt: Drug response
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available