Q23Q (p.Gln23Gln) variant of BBS4 (BBSome complex member BBS4)
Q23Q (p.Gln23Gln) in BBS4 (BBSome complex member BBS4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Q23Q (p.Gln23Gln) variant details
- p.Gln23Gln
- rs1481552507
- gnomAD 15-72695221-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.087
- CADD 0.90
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available