A26L (p.Ala26Leu) variant of BBS4 (BBSome complex member BBS4)
A26L (p.Ala26Leu) 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.
A26L (p.Ala26Leu) variant details
- p.Ala26Leu
- gnomAD 15-72695221-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 24.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available