F133L (p.Phe133Leu) variant of F5 (Coagulation factor V)
F133L (p.Phe133Leu) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
F133L (p.Phe133Leu) variant details
- p.Phe133Leu
- ESP rs373541623
- ExAC rs373541623
- TOPMed rs373541623
- gnomAD rs373541623
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.27
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available