G15E (p.Gly15Glu) variant of SLC22A5 (O76082)
G15E (p.Gly15Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G15E (p.Gly15Glu) variant details
- p.Gly15Glu
- rs751129547
- ClinGen CA3403772
- ClinVar RCV001376870
- ExAC rs751129547
- Conflicting interpretations
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.87
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Renal carnitine transport defect)
- EBI: Variant of uncertain significance (in CDSP)
- UniProt: Uncertain significance (in CDSP)
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)