S9S (p.Ser9Ser) variant of BBS1 (BBSome complex member BBS1)
S9S (p.Ser9Ser) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S9S (p.Ser9Ser) variant details
- p.Ser9Ser
- rs373772468
- gnomAD 11-66510686-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available