R83P (p.Arg83Pro) variant of SLC22A5 (O76082)
R83P (p.Arg83Pro) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; 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.
R83P (p.Arg83Pro) variant details
- p.Arg83Pro
- rs72552726
- ClinGen CA360802670
- ClinVar RCV001091581
- ClinVar RCV003615868
- Conflicting interpretations
- not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)