R19S (p.Arg19Ser) variant of SLC22A5 (O76082)
R19S (p.Arg19Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- rs1319889867
- ClinGen CA360802287
- ClinVar RCV000807350
- TOPMed rs1319889867
- Conflicting interpretations
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.62
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)