S28R (p.Ser28Arg) variant of SLC22A5 (O76082)
S28R (p.Ser28Arg) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- rs773693788
- ClinGen CA360802348
- ClinVar RCV002286651
- ExAC rs773693788
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.84
- CADD 23.50
- PolyPhen-2 0.42
- SIFT 0.04
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)