L104F (p.Leu104Phe) variant of SLC6A3 (Q01959)
L104F (p.Leu104Phe) in SLC6A3 (Q01959) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L104F (p.Leu104Phe) variant details
- p.Leu104Phe
- ESP rs141740642
- TOPMed rs141740642
- gnomAD rs141740642
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.16
- AlphaMissense 0.06
- MetaLR 0.25
- MetaSVM -0.78
- CADD 16.90
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available