R8Q (p.Arg8Gln) variant of FGG (Fibrinogen gamma chain)
R8Q (p.Arg8Gln) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs750711649
- NCI-TCGA Cosmic COSV6019
- cosmic curated COSV60194
- ExAC rs750711649
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0844
- REVEL 0.04
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available