W37L (p.Trp37Leu) variant of BBS4 (BBSome complex member BBS4)
W37L (p.Trp37Leu) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
W37L (p.Trp37Leu) variant details
- p.Trp37Leu
- ESP rs370049399
- TOPMed rs370049399
- gnomAD rs370049399
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available