E65K (p.Glu65Lys) variant of FBN2 (Fibrillin-2)
E65K (p.Glu65Lys) in FBN2 (Fibrillin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
E65K (p.Glu65Lys) variant details
- p.Glu65Lys
- NCI-TCGA Cosmic COSV5255
- cosmic curated COSV52551
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available