I28M (p.Ile28Met) variant of FMR1 (Q06787)
I28M (p.Ile28Met) 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.
I28M (p.Ile28Met) variant details
- p.Ile28Met
- NCI-TCGA Cosmic COSV9950
- cosmic curated COSV99503
- TOPMed rs2043190133
- 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 -0.974