R282G (p.Arg282Gly) variant of SLC22A5 (O76082)
R282G (p.Arg282Gly) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R282G (p.Arg282Gly) variant details
- p.Arg282Gly
- rs121908886
- ClinGen CA360805538
- ClinVar RCV001242928
- ESP rs121908886
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.85
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)