L273P (p.Leu273Pro) variant of SLC22A5 (O76082)
L273P (p.Leu273Pro) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L273P (p.Leu273Pro) variant details
- p.Leu273Pro
- rs760320629
- ClinGen CA3403981
- ClinVar RCV000537898
- ExAC rs760320629
- Pathogenic/Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.85
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)