S15S (p.Ser15Ser) variant of BBS4 (BBSome complex member BBS4)
S15S (p.Ser15Ser) in BBS4 (BBSome complex member BBS4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S15S (p.Ser15Ser) variant details
- p.Ser15Ser
- rs2065053978
- gnomAD 15-72695197-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 7.74
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available