E51G (p.Glu51Gly) variant of BBS1 (BBSome complex member BBS1)
E51G (p.Glu51Gly) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E51G (p.Glu51Gly) variant details
- p.Glu51Gly
- ExAC rs760793954
- gnomAD rs760793954
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.83
- AlphaMissense 0.62
- MetaLR 0.82
- MetaSVM 0.79
- CADD 33.00
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available