C40W (p.Cys40Trp) variant of BBS1 (BBSome complex member BBS1)
C40W (p.Cys40Trp) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
C40W (p.Cys40Trp) variant details
- p.Cys40Trp
- gnomAD 11-66511085-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.80
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available