R399Q (p.Arg399Gln) variant of SLC22A5 (O76082)
R399Q (p.Arg399Gln) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R399Q (p.Arg399Gln) variant details
- p.Arg399Gln
- rs121908891
- ClinGen CA340587
- ClinVar RCV000006793
- ClinVar RCV001532526
- Pathogenic
- Carnitine deficiency; not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.74
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Carnitine deficiency; not provided; Renal carnitine transport de)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Phenotype and genotype variation in primary carnitine deficiency. (PMID 11715001)
- Cited in: Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. (PMID 15714519)