F41L (p.Phe41Leu) variant of SLC22A1 (O15245)
F41L (p.Phe41Leu) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
F41L (p.Phe41Leu) variant details
- p.Phe41Leu
- rs2297373
- UniProt VAR 043320
- ExAC rs2297373
- TOPMed rs2297373
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.85
- CADD 23.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available
- Cited in: Seven novel single nucleotide polymorphisms in the human SLC22A1 gene encoding organic cation transporter 1 (OCT1). (PMID 15499200)