R227C (p.Arg227Cys) variant of SLC22A5 (O76082)
R227C (p.Arg227Cys) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R227C (p.Arg227Cys) variant details
- p.Arg227Cys
- rs546902674
- ClinGen CA3403948
- NCI-TCGA Cosmic COSV5537
- cosmic curated COSV55372
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.76
- AlphaMissense 0.97
- MetaLR 0.82
- MetaSVM 0.86
- CADD 28.40
- 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 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)