R8W (p.Arg8Trp) variant of FGG (Fibrinogen gamma chain)
R8W (p.Arg8Trp) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs758812965
- ClinGen CA3115776
- cosmic curated COSV60195
- ClinVar RCV002983561
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.15
- CADD 19.20
- PolyPhen-2 0.45
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- 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)