F41L (p.Phe41Leu) variant of SLC22A5 (O76082)
F41L (p.Phe41Leu) 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. 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.
F41L (p.Phe41Leu) variant details
- p.Phe41Leu
- rs2126764960
- ClinGen CA360802425
- ClinVar RCV001943288
- Ensembl rs2126764960
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.79
- CADD 24.30
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)