P30S (p.Pro30Ser) variant of BBS4 (BBSome complex member BBS4)
P30S (p.Pro30Ser) 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.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- NCI-TCGA Cosmic COSV5144
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available