E54del (p.Glu54del) variant of FOS (Protein c-Fos)
E54del (p.Glu54del) in FOS (Protein c-Fos) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E54del (p.Glu54del) variant details
- rs1357628386
- gnomAD 14-75280567-CAGA-
- Splice Acceptor
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 24.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available