A26E (p.Ala26Glu) variant of BBS4 (BBSome complex member BBS4)
A26E (p.Ala26Glu) in BBS4 (BBSome complex member BBS4) 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.
A26E (p.Ala26Glu) variant details
- p.Ala26Glu
- rs1269839098
- gnomAD 15-72695219-C-CAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 17.20
- Population evidence available
- Structural context available
- Literature evidence available