R11S (p.Arg11Ser) variant of BBS2 (BBSome complex member BBS2)
R11S (p.Arg11Ser) 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.
R11S (p.Arg11Ser) variant details
- p.Arg11Ser
- TOPMed rs1443254481
- gnomAD rs1443254481
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.29
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available