V33I (p.Val33Ile) variant of FGB (Fibrinogen beta chain)
V33I (p.Val33Ile) in FGB (Fibrinogen beta chain) 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 0.05 / 1. The record also includes population frequency data and structural context.
V33I (p.Val33Ile) variant details
- p.Val33Ile
- 1000Genomes rs562142566
- ExAC rs562142566
- gnomAD rs562142566
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0537
- REVEL 0.05
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available