P266L (p.Pro266Leu) variant of SLC22A5 (O76082)
P266L (p.Pro266Leu) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine deficiency; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P266L (p.Pro266Leu) variant details
- p.Pro266Leu
- rs538372785
- ClinGen CA3403972
- ClinVar RCV001050052
- ClinVar RCV002226512
- Pathogenic/Likely pathogenic
- Carnitine deficiency; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.51
- CADD 24.10
- PolyPhen-2 0.55
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; Renal carnitine transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)