S26R (p.Ser26Arg) variant of SLC22A5 (O76082)
S26R (p.Ser26Arg) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal carnitine transport defect. The record also includes published literature and structural context.
S26R (p.Ser26Arg) variant details
- p.Ser26Arg
- rs2532088198
- ClinGen CA360802336
- ClinVar RCV003617032
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)