S54P (p.Ser54Pro) variant of FBN2 (Fibrillin-2)
S54P (p.Ser54Pro) in FBN2 (Fibrillin-2) is a missense change. The record also includes structural context.
S54P (p.Ser54Pro) variant details
- p.Ser54Pro
- cosmic curated COSV99329
- Missense
- Structural context available