C77S (p.Cys77Ser) variant of BBS2 (BBSome complex member BBS2)
C77S (p.Cys77Ser) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
C77S (p.Cys77Ser) variant details
- p.Cys77Ser
- TOPMed rs1964679562
- gnomAD rs1964679562
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.31
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.48
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available