C50W (p.Cys50Trp) variant of SLC22A5 (O76082)
C50W (p.Cys50Trp) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C50W (p.Cys50Trp) variant details
- p.Cys50Trp
- rs974348546
- ClinGen CA127196327
- ClinVar RCV002587397
- TOPMed rs974348546
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.84
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Likely benign (in CDSP)
- UniProt: Likely benign (in CDSP)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)