S18S (p.Ser18Ser) variant of BBS4 (BBSome complex member BBS4)
S18S (p.Ser18Ser) in BBS4 (BBSome complex member BBS4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- rs1323367957
- gnomAD 15-72695206-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 8.53
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available