F17L (p.Phe17Leu) variant of SLC22A5 (O76082)
F17L (p.Phe17Leu) in SLC22A5 (O76082) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CDSP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- rs11568520
- ClinGen CA342607
- ClinVar RCV000022297
- ClinVar RCV000489029
- Pathogenic
- in CDSP
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.90
- CADD 24.60
- PolyPhen-2 0.90
- SIFT 0.00
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available
- Cited in: Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). (PMID 16931768)
- Cited in: Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. (PMID 20074989)