E54Q (p.Glu54Gln) variant of FANCC (Fanconi anemia group C protein)
E54Q (p.Glu54Gln) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
E54Q (p.Glu54Gln) variant details
- p.Glu54Gln
- NCI-TCGA Cosmic COSV5665
- cosmic curated COSV56659
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available