S26N (p.Ser26Asn) variant of SLC22A5 (O76082)
S26N (p.Ser26Asn) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine deficiency; not provided; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S26N (p.Ser26Asn) variant details
- p.Ser26Asn
- rs772578415
- ClinGen CA3403778
- ClinVar RCV000439652
- ClinVar RCV001237032
- Pathogenic/Likely pathogenic
- Carnitine deficiency; not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.46
- CADD 22.90
- PolyPhen-2 0.10
- SIFT 0.20
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; not provided; Renal carnitine transport de)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Genotype-phenotype correlation in primary carnitine deficiency. (PMID 21922592)
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)