Q11K (p.Gln11Lys) variant of BBS4 (BBSome complex member BBS4)
Q11K (p.Gln11Lys) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q11K (p.Gln11Lys) variant details
- p.Gln11Lys
- TOPMed rs1040144478
- gnomAD rs1040144478
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available