E4G (p.Glu4Gly) variant of BBS4 (BBSome complex member BBS4)
E4G (p.Glu4Gly) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E4G (p.Glu4Gly) variant details
- p.Glu4Gly
- ExAC rs760505590
- TOPMed rs760505590
- gnomAD rs760505590
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.21
- MetaLR 0.23
- MetaSVM -0.81
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available