S38L (p.Ser38Leu) variant of BBS1 (BBSome complex member BBS1)
S38L (p.Ser38Leu) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S38L (p.Ser38Leu) variant details
- p.Ser38Leu
- gnomAD 11-66511073-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available