A2G (p.Ala2Gly) variant of BBS4 (BBSome complex member BBS4)
A2G (p.Ala2Gly) 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 0.47 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- TOPMed rs923399180
- gnomAD rs923399180
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.37
- MetaLR 0.47
- MetaSVM -0.13
- CADD 27.20
- PolyPhen-2 0.94
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available