F10L (p.Phe10Leu) variant of F8 (Coagulation factor VIII)
F10L (p.Phe10Leu) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
F10L (p.Phe10Leu) variant details
- p.Phe10Leu
- ExAC rs782257061
- TOPMed rs782257061
- gnomAD rs782257061
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.54
- MetaLR 0.87
- MetaSVM 0.21
- CADD 17.00
- PolyPhen-2 0.04
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available