Q59R (p.Gln59Arg) variant of BBS2 (BBSome complex member BBS2)
Q59R (p.Gln59Arg) 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.
Q59R (p.Gln59Arg) variant details
- p.Gln59Arg
- TOPMed rs200491384
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.38
- CADD 21.10
- PolyPhen-2 0.14
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available