S893Y (p.Ser893Tyr) variant of ABCB1 (ATP-dependent translocase ABCB1)
S893Y (p.Ser893Tyr) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Idiopathic generalized epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
S893Y (p.Ser893Tyr) variant details
- p.Ser893Tyr
- rs2117129739
- ClinGen CA368054231
- cosmic curated COSV55946
- ClinVar RCV001509550
- Likely pathogenic
- Idiopathic generalized epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 0.71
- MetaLR 0.84
- MetaSVM 0.90
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.52
- ClinVar: Likely pathogenic (Idiopathic generalized epilepsy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available