R134Q (p.Arg134Gln) variant of FGG (Fibrinogen gamma chain)
R134Q (p.Arg134Gln) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital afibrinogenemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R134Q (p.Arg134Gln) variant details
- p.Arg134Gln
- rs764559342
- ClinGen CA3115662
- cosmic curated COSV60195
- ClinVar RCV001144044
- Uncertain significance
- Congenital afibrinogenemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.12
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Congenital afibrinogenemia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available