G139S (p.Gly139Ser) variant of BBS2 (BBSome complex member BBS2)
G139S (p.Gly139Ser) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in BBS2. The record also includes structural context.
G139S (p.Gly139Ser) variant details
- p.Gly139Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- in BBS2
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in BBS2)
- Structural context available