C77Y (p.Cys77Tyr) variant of BBS2 (BBSome complex member BBS2)
C77Y (p.Cys77Tyr) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
C77Y (p.Cys77Tyr) variant details
- p.Cys77Tyr
- TOPMed rs1964679482
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.69
- CADD 25.70
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available