W18G (p.Trp18Gly) variant of FGA (Fibrinogen alpha chain)
W18G (p.Trp18Gly) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
W18G (p.Trp18Gly) variant details
- p.Trp18Gly
- ExAC rs752060003
- gnomAD rs752060003
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.12
- CADD 23.30
- PolyPhen-2 0.06
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.4e-05)