A54T (p.Ala54Thr) variant of BBS2 (BBSome complex member BBS2)
A54T (p.Ala54Thr) 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.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- NCI-TCGA Cosmic COSV9980
- cosmic curated COSV99802
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available