S7S (p.Ser7Ser) variant of BBS1 (BBSome complex member BBS1)
S7S (p.Ser7Ser) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S7S (p.Ser7Ser) variant details
- p.Ser7Ser
- rs745789744
- gnomAD 11-66510680-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available