G22R (p.Gly22Arg) variant of BBS2 (BBSome complex member BBS2)
G22R (p.Gly22Arg) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- ESP rs371364141
- ExAC rs371364141
- TOPMed rs371364141
- gnomAD rs371364141
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.83
- CADD 29.90
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available