R169W (p.Arg169Trp) variant of SLC22A5 (O76082)
R169W (p.Arg169Trp) 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; 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.
R169W (p.Arg169Trp) variant details
- p.Arg169Trp
- rs121908890
- ClinGen CA340585
- ClinVar RCV000006791
- UniProt VAR 064122
- Pathogenic/Likely pathogenic
- Carnitine deficiency; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.89
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Population evidence available
- Structural context available
- Cited in: Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of… (PMID 11058897)
- Cited in: Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. (PMID 15714519)