E111G (p.Glu111Gly) variant of FGA (Fibrinogen alpha chain)
E111G (p.Glu111Gly) in FGA (Fibrinogen alpha 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 0.58 / 1. The record also includes population frequency data.
E111G (p.Glu111Gly) variant details
- p.Glu111Gly
- rs1335815165
- NCI-TCGA Cosmic COSV5739
- cosmic curated COSV57396
- gnomAD rs1335815165
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.53
- CADD 26.70
- PolyPhen-2 0.90
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00041)