S470Y (p.Ser470Tyr) variant of SLC22A5 (O76082)
S470Y (p.Ser470Tyr) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
S470Y (p.Ser470Tyr) variant details
- p.Ser470Tyr
- rs386134222
- ClinGen CA360809207
- ClinVar RCV002918662
- Pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- AlphaMissense 0.96
- MetaLR 0.69
- MetaSVM 0.47
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)