W37C (p.Trp37Cys) variant of BBS4 (BBSome complex member BBS4)
W37C (p.Trp37Cys) in BBS4 (BBSome complex member BBS4) 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 and structural context.
W37C (p.Trp37Cys) variant details
- p.Trp37Cys
- ExAC rs765714902
- gnomAD rs765714902
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.54
- MetaLR 0.39
- MetaSVM -0.15
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available