S43L (p.Ser43Leu) variant of ABCB1 (ATP-dependent translocase ABCB1)
S43L (p.Ser43Leu) 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 0.52 / 1. The record also includes structural context.
S43L (p.Ser43Leu) variant details
- p.Ser43Leu
- rs957318449
- ClinGen CA162472588
- cosmic curated COSV55956
- ClinVar RCV001028487
- drug response
- Tramadol response
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.45
- MetaLR 0.49
- MetaSVM -0.19
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.69
- ClinVar: drug response (Tramadol response)
- EBI: Drug response
- UniProt: Drug response
- Structural context available