G234R (p.Gly234Arg) variant of SLC22A5 (O76082)
G234R (p.Gly234Arg) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G234R (p.Gly234Arg) variant details
- p.Gly234Arg
- rs1457258524
- ClinGen CA360805028
- ClinVar RCV002286657
- UniProt VAR 064129
- Pathogenic/Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.79
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. (PMID 20074989)
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)