R227L (p.Arg227Leu) variant of SLC22A5 (O76082)
R227L (p.Arg227Leu) 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 0.86 / 1. The record also includes published literature and structural context.
R227L (p.Arg227Leu) variant details
- p.Arg227Leu
- rs185551386
- ClinGen CA360804992
- ClinVar RCV002022086
- 1000Genomes rs185551386
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.90
- MetaLR 0.86
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)