S6S (p.Ser6Ser) variant of BBS1 (BBSome complex member BBS1)
S6S (p.Ser6Ser) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S6S (p.Ser6Ser) variant details
- p.Ser6Ser
- rs758441011
- gnomAD 11-66510677-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 3.79
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available