L263R (p.Leu263Arg) variant of SLC22A5 (O76082)
L263R (p.Leu263Arg) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L263R (p.Leu263Arg) variant details
- p.Leu263Arg
- rs1400244280
- ClinGen CA360805213
- ClinVar RCV001338604
- TOPMed rs1400244280
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- AlphaMissense 0.86
- MetaLR 0.62
- MetaSVM 0.41
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)