E36K (p.Glu36Lys) variant of FBN1 (Fibrillin-1)
E36K (p.Glu36Lys) in FBN1 (Fibrillin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10035
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.