S26G (p.Ser26Gly) variant of SLC22A5 (O76082)
S26G (p.Ser26Gly) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S26G (p.Ser26Gly) variant details
- p.Ser26Gly
- rs1751828398
- ClinGen CA360802331
- ClinVar RCV001215003
- Ensembl rs1751828398
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.45
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.33
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)