P16L (p.Pro16Leu) variant of SLC22A5 (O76082)
P16L (p.Pro16Leu) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes published literature and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs2532087944
- ClinGen CA360802271
- ClinVar RCV003330484
- cosmic curated COSV99810
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Structural context available
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)
- Cited in: Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary… (PMID 10072434)