G48R (p.Gly48Arg) variant of BBS1 (BBSome complex member BBS1)
G48R (p.Gly48Arg) in BBS1 (BBSome complex member BBS1) 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.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- ExAC rs773503074
- gnomAD rs773503074
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available