S39A (p.Ser39Ala) variant of SLC22A5 (O76082)
S39A (p.Ser39Ala) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Renal carnitine transport defect; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S39A (p.Ser39Ala) variant details
- p.Ser39Ala
- rs544332057
- ClinGen CA3403789
- ClinVar RCV001866448
- ClinVar RCV003164065
- Conflicting interpretations
- Renal carnitine transport defect; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.14
- CADD 3.97
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Renal carnitine transport defect; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)