R22G (p.Arg22Gly) variant of BBS4 (BBSome complex member BBS4)
R22G (p.Arg22Gly) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R22G (p.Arg22Gly) variant details
- p.Arg22Gly
- ExAC rs727503820
- TOPMed rs727503820
- gnomAD rs727503820
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -0.99
- CADD 8.98
- PolyPhen-2 0.03
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available