A26S (p.Ala26Ser) variant of BBS4 (BBSome complex member BBS4)
A26S (p.Ala26Ser) in BBS4 (BBSome complex member BBS4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- rs1567398832
- gnomAD 15-72695221-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available