K39Q (p.Lys39Gln) variant of BBS2 (BBSome complex member BBS2)
K39Q (p.Lys39Gln) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes structural context.
K39Q (p.Lys39Gln) variant details
- p.Lys39Gln
- TOPMed rs1597033227
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available