S38C (p.Ser38Cys) variant of SLC22A5 (O76082)
S38C (p.Ser38Cys) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S38C (p.Ser38Cys) variant details
- p.Ser38Cys
- rs369354736
- ClinGen CA360802407
- ClinVar RCV002597084
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.55
- CADD 22.90
- PolyPhen-2 0.19
- SIFT 0.04
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)