L12V (p.Leu12Val) variant of FGB (Fibrinogen beta chain)
L12V (p.Leu12Val) in FGB (Fibrinogen beta chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- ExAC rs777895153
- TOPMed rs777895153
- gnomAD rs777895153
- Uncertain significance
- Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.07
- CADD 5.07
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available