R19P (p.Arg19Pro) variant of SLC22A5 (O76082)
R19P (p.Arg19Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R19P (p.Arg19Pro) variant details
- p.Arg19Pro
- rs72552723
- ClinGen CA342608
- ClinVar RCV000022298
- ClinVar RCV000730713
- Pathogenic/Likely pathogenic
- Carnitine deficiency; Renal carnitine transport defect; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.69
- CADD 25.00
- PolyPhen-2 0.64
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; Renal carnitine transport defect; not prov)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Phenotype and genotype variation in primary carnitine deficiency. (PMID 11715001)
- Cited in: Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. (PMID 15714519)