N44T (p.Asn44Thr) variant of BBS2 (BBSome complex member BBS2)
N44T (p.Asn44Thr) 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.
N44T (p.Asn44Thr) variant details
- p.Asn44Thr
- NCI-TCGA Cosmic COSV5532
- cosmic curated COSV55326
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available