I82L (p.Ile82Leu) variant of F5 (Coagulation factor V)
I82L (p.Ile82Leu) in F5 (Coagulation factor V) 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 0.43 / 1. The record also includes population frequency data and structural context.
I82L (p.Ile82Leu) variant details
- p.Ile82Leu
- ESP rs377674263
- ExAC rs377674263
- TOPMed rs377674263
- gnomAD rs377674263
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.39
- CADD 19.80
- PolyPhen-2 0.27
- SIFT 0.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available