C51Y (p.Cys51Tyr) variant of BBS4 (BBSome complex member BBS4)
C51Y (p.Cys51Tyr) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
C51Y (p.Cys51Tyr) variant details
- p.Cys51Tyr
- TOPMed rs1008706809
- gnomAD rs1008706809
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.68
- MetaLR 0.39
- MetaSVM -0.12
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available