R399W (p.Arg399Trp) variant of SLC22A5 (O76082)
R399W (p.Arg399Trp) 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; not provided; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R399W (p.Arg399Trp) variant details
- p.Arg399Trp
- rs267607054
- ClinGen CA312953
- cosmic curated COSV55372
- ClinVar RCV000006796
- Pathogenic/Likely pathogenic
- Carnitine deficiency; not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.74
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; not provided; Renal carnitine transport de)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- 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)