R114S (p.Arg114Ser) variant of BBS2 (BBSome complex member BBS2)
R114S (p.Arg114Ser) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
R114S (p.Arg114Ser) variant details
- p.Arg114Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available