D47E (p.Asp47Glu) variant of BBS4 (BBSome complex member BBS4)
D47E (p.Asp47Glu) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
D47E (p.Asp47Glu) variant details
- p.Asp47Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available