A54V (p.Ala54Val) variant of BBS2 (BBSome complex member BBS2)
A54V (p.Ala54Val) 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.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- NCI-TCGA Cosmic COSV5532
- cosmic curated COSV55328
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available