R19C (p.Arg19Cys) variant of SLC22A5 (O76082)
R19C (p.Arg19Cys) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Renal carnitine transport defect; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- rs1319889867
- ClinGen CA360802289
- ClinVar RCV001364335
- ClinVar RCV005419101
- Conflicting interpretations
- Renal carnitine transport defect; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.65
- CADD 25.70
- PolyPhen-2 0.68
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Renal carnitine transport defect; not specified)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)