S9C (p.Ser9Cys) variant of BBS1 (BBSome complex member BBS1)
S9C (p.Ser9Cys) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S9C (p.Ser9Cys) variant details
- p.Ser9Cys
- TOPMed rs1432515630
- gnomAD rs1432515630
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.28
- CADD 8.30
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 4.5e-05)
- Structural context available