R83C (p.Arg83Cys) variant of SLC22A5 (O76082)
R83C (p.Arg83Cys) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 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.
R83C (p.Arg83Cys) variant details
- p.Arg83Cys
- rs749499293
- ClinGen CA3403819
- ClinVar RCV000701752
- ExAC rs749499293
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.76
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)