Y358C (p.Tyr358Cys) variant of SLC22A5 (O76082)
Y358C (p.Tyr358Cys) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
Y358C (p.Tyr358Cys) variant details
- p.Tyr358Cys
- rs1266953756
- ClinGen CA360807440
- ClinVar RCV002664012
- Pathogenic/Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- AlphaMissense 0.92
- MetaLR 0.77
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic/Likely pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)