Q31R (p.Gln31Arg) variant of FGB (Fibrinogen beta chain)
Q31R (p.Gln31Arg) in FGB (Fibrinogen beta chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
Q31R (p.Gln31Arg) variant details
- p.Gln31Arg
- rs2530757532
- ClinGen CA358507698
- ClinVar RCV002841500
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.06
- CADD 10.90
- PolyPhen-2 0.06
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)