A442I (p.Ala442Ile) variant of SLC22A5 (O76082)
A442I (p.Ala442Ile) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine deficiency; Inborn genetic diseases; not provided. The record also includes published literature and structural context.
A442I (p.Ala442Ile) variant details
- p.Ala442Ile
- rs267607053
- ClinGen CA312974
- ClinVar RCV000006797
- ClinVar RCV000186157
- Pathogenic/Likely pathogenic
- Carnitine deficiency; Inborn genetic diseases; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Structural context available
- Cited in: Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular… (PMID 20027113)
- Cited in: Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine… (PMID 20574985)