T47I (p.Thr47Ile) variant of FGG (Fibrinogen gamma chain)
T47I (p.Thr47Ile) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Congenital afibrinogenemia; Abnormal bleeding. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- rs138511699
- ClinGen CA3115719
- cosmic curated COSV99062
- ClinVar RCV000852024
- Conflicting interpretations
- not specified; Congenital afibrinogenemia; Abnormal bleeding
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.89
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not specified; Congenital afibrinogenemia; Abnormal bleeding)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available