E18G (p.Glu18Gly) variant of BBS1 (BBSome complex member BBS1)
E18G (p.Glu18Gly) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- gnomAD 11-66511018-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.73
- CADD 25.30
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available