R227G (p.Arg227Gly) variant of SLC22A5 (O76082)
R227G (p.Arg227Gly) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R227G (p.Arg227Gly) variant details
- p.Arg227Gly
- rs546902674
- ClinGen CA3403947
- ClinVar RCV003508676
- 1000Genomes rs546902674
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.78
- AlphaMissense 0.97
- MetaLR 0.82
- MetaSVM 0.86
- CADD 25.80
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)