D104Y (p.Asp104Tyr) variant of BBS2 (BBSome complex member BBS2)
D104Y (p.Asp104Tyr) 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 and RP74. The record also includes structural context.
D104Y (p.Asp104Tyr) variant details
- p.Asp104Tyr
- NCI-TCGA Cosmic COSV5532
- cosmic curated COSV55326
- Variant assessed as somatic; moderate impact.
- in BBS2 and RP74
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in BBS2 and RP74)
- Structural context available