C40C (p.Cys40Cys) variant of BBS1 (BBSome complex member BBS1)
C40C (p.Cys40Cys) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
C40C (p.Cys40Cys) variant details
- p.Cys40Cys
- rs1224146191
- gnomAD 11-66511085-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available