L507S (p.Leu507Ser) variant of SLC22A5 (O76082)
L507S (p.Leu507Ser) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L507S (p.Leu507Ser) variant details
- p.Leu507Ser
- rs1157198543
- ClinGen CA360809843
- ClinVar RCV001380048
- UniProt VAR 064152
- Pathogenic/Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.90
- CADD 28.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine… (PMID 20574985)
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)