T48I (p.Thr48Ile) variant of FGG (Fibrinogen gamma chain)
T48I (p.Thr48Ile) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar 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 0.52 / 1. The record also includes population frequency data and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- TOPMed rs1236445818
- gnomAD rs1236445818
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.63
- CADD 25.80
- PolyPhen-2 0.94
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available