Q18E (p.Gln18Glu) variant of SLC22A5 (O76082)
Q18E (p.Gln18Glu) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Q18E (p.Gln18Glu) variant details
- p.Gln18Glu
- rs2126764773
- ClinGen CA360802280
- ClinVar RCV001982082
- ClinVar RCV004699569
- Uncertain significance
- not specified; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.82
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)