A74S (p.Ala74Ser) variant of BBS2 (BBSome complex member BBS2)
A74S (p.Ala74Ser) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A74S (p.Ala74Ser) variant details
- p.Ala74Ser
- TOPMed rs1413518152
- gnomAD rs1413518152
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.09
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.83
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available