L8F (p.Leu8Phe) variant of F5 (Coagulation factor V)
L8F (p.Leu8Phe) 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 Congenital factor V deficiency. 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.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- rs754696079
- ClinGen CA1234752
- ClinVar RCV003763632
- ExAC rs754696079
- Uncertain significance
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.26
- CADD 11.70
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Congenital factor V deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available