C40A (p.Cys40Ala) variant of BBS1 (BBSome complex member BBS1)
C40A (p.Cys40Ala) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
C40A (p.Cys40Ala) variant details
- p.Cys40Ala
- rs1490351829
- gnomAD 11-66511082-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available