S5S (p.Ser5Ser) variant of BBS1 (BBSome complex member BBS1)
S5S (p.Ser5Ser) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S5S (p.Ser5Ser) variant details
- p.Ser5Ser
- gnomAD 11-66510674-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available