W14R (p.Trp14Arg) variant of SLC22A5 (O76082)
W14R (p.Trp14Arg) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
W14R (p.Trp14Arg) variant details
- p.Trp14Arg
- rs756863825
- ClinGen CA127196122
- ClinVar RCV000703959
- ClinVar RCV002226488
- Pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.84
- CADD 30.00
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)