S38Y (p.Ser38Tyr) variant of SLC22A5 (O76082)
S38Y (p.Ser38Tyr) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S38Y (p.Ser38Tyr) variant details
- p.Ser38Tyr
- rs369354736
- ClinGen CA3403786
- ClinVar RCV001346970
- ClinVar RCV002226543
- Pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.56
- CADD 18.40
- PolyPhen-2 0.10
- SIFT 0.51
- ClinVar: Pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)