G48C (p.Gly48Cys) variant of BBS1 (BBSome complex member BBS1)
G48C (p.Gly48Cys) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G48C (p.Gly48Cys) variant details
- p.Gly48Cys
- gnomAD 11-66514408-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 17.00
- Population evidence available
- Structural context available
- Literature evidence available