R51Q (p.Arg51Gln) variant of SLC22A5 (O76082)
R51Q (p.Arg51Gln) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- rs1412128597
- ClinGen CA360802480
- ClinVar RCV003118547
- ClinVar RCV004790477
- Uncertain significance
- not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.34
- CADD 22.60
- PolyPhen-2 0.36
- SIFT 0.30
- ClinVar: Uncertain significance (not provided; Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)