R169Q (p.Arg169Gln) variant of SLC22A5 (O76082)
R169Q (p.Arg169Gln) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine deficiency; not provided; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R169Q (p.Arg169Gln) variant details
- p.Arg169Gln
- rs121908889
- ClinGen CA312938
- cosmic curated COSV55372
- ClinVar RCV000006790
- Pathogenic/Likely pathogenic
- Carnitine deficiency; not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.91
- AlphaMissense 0.90
- MetaLR 0.88
- MetaSVM 1.03
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; not provided; Renal carnitine transport de)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Population evidence available
- Structural context available
- Cited in: Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a… (PMID 10425211)
- Cited in: Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine… (PMID 20574985)