W18R (p.Trp18Arg) variant of FGA (Fibrinogen alpha chain)
W18R (p.Trp18Arg) in FGA (Fibrinogen alpha 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 0.26 / 1. The record also includes population frequency data.
W18R (p.Trp18Arg) variant details
- p.Trp18Arg
- ExAC rs752060003
- gnomAD rs752060003
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.15
- CADD 24.20
- PolyPhen-2 0.74
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)