S16Q (p.Ser16Gln) variant of BBS1 (BBSome complex member BBS1)
S16Q (p.Ser16Gln) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S16Q (p.Ser16Gln) variant details
- p.Ser16Gln
- rs1291184039
- gnomAD 11-66510701-TGA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 25.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available