R227S (p.Arg227Ser) variant of SLC22A5 (O76082)
R227S (p.Arg227Ser) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R227S (p.Arg227Ser) variant details
- p.Arg227Ser
- rs546902674
- ClinGen CA360804990
- ClinVar RCV002286650
- 1000Genomes rs546902674
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 0.97
- MetaLR 0.82
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Population evidence available
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)