R471L (p.Arg471Leu) variant of SLC22A5 (O76082)
R471L (p.Arg471Leu) 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; not provided; Carnitine deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R471L (p.Arg471Leu) variant details
- p.Arg471Leu
- rs386134223
- ClinGen CA3404151
- ClinVar RCV001229241
- ClinVar RCV005639291
- Likely pathogenic
- Renal carnitine transport defect; not provided; Carnitine deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.82
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Renal carnitine transport defect; not provided; Carnitine defici)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)