C12W (p.Cys12Trp) variant of BBS1 (BBSome complex member BBS1)
C12W (p.Cys12Trp) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
C12W (p.Cys12Trp) variant details
- p.Cys12Trp
- gnomAD 11-66510695-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.34
- CADD 22.60
- PolyPhen-2 0.20
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available