F10L (p.Phe10Leu) variant of SLC22A5 (O76082)
F10L (p.Phe10Leu) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal carnitine transport defect; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
F10L (p.Phe10Leu) variant details
- p.Phe10Leu
- 1000Genomes rs574313463
- ExAC rs574313463
- TOPMed rs574313463
- gnomAD rs574313463
- Uncertain significance
- Renal carnitine transport defect; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Renal carnitine transport defect; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available