G54C (p.Gly54Cys) variant of FMR1 (Q06787)
G54C (p.Gly54Cys) in FMR1 (Q06787) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes experimental measurements and structural context.
G54C (p.Gly54Cys) variant details
- p.Gly54Cys
- NCI-TCGA Cosmic COSV9950
- cosmic curated COSV99503
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.163