Q18R (p.Gln18Arg) variant of SLC22A5 (O76082)
Q18R (p.Gln18Arg) 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 0.86 / 1. The record also includes published literature and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- rs2126764776
- ClinGen CA360802284
- ClinVar RCV001933263
- Ensembl rs2126764776
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 0.85
- MetaLR 0.84
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.74
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)