E51V (p.Glu51Val) variant of BBS1 (BBSome complex member BBS1)
E51V (p.Glu51Val) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E51V (p.Glu51Val) variant details
- p.Glu51Val
- ExAC rs760793954
- gnomAD rs760793954
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.80
- AlphaMissense 0.62
- MetaLR 0.82
- MetaSVM 0.79
- CADD 33.00
- PolyPhen-2 1.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available