C30Y (p.Cys30Tyr) variant of BBS2 (BBSome complex member BBS2)
C30Y (p.Cys30Tyr) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
C30Y (p.Cys30Tyr) variant details
- p.Cys30Tyr
- ExAC rs760778734
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.69
- CADD 27.90
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available