T47S (p.Thr47Ser) variant of FGG (Fibrinogen gamma chain)
T47S (p.Thr47Ser) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
T47S (p.Thr47Ser) variant details
- p.Thr47Ser
- TOPMed rs1177989745
- gnomAD rs1177989745
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.61
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available