R56G (p.Arg56Gly) variant of BBS2 (BBSome complex member BBS2)
R56G (p.Arg56Gly) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R56G (p.Arg56Gly) variant details
- p.Arg56Gly
- gnomAD rs1182528195
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.76
- CADD 22.30
- PolyPhen-2 0.16
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available