P266R (p.Pro266Arg) variant of SLC22A5 (O76082)
P266R (p.Pro266Arg) 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.
P266R (p.Pro266Arg) variant details
- p.Pro266Arg
- rs538372785
- ClinGen CA3403973
- ClinVar RCV001035191
- 1000Genomes rs538372785
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.65
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)