W14C (p.Trp14Cys) variant of SLC22A5 (O76082)
W14C (p.Trp14Cys) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
W14C (p.Trp14Cys) variant details
- p.Trp14Cys
- rs796052036
- ClinGen CA360802261
- ClinVar RCV001965299
- TOPMed rs796052036
- Conflicting interpretations
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.79
- CADD 32.00
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Renal carnitine transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)