E18E (p.Glu18Glu) variant of BBS1 (BBSome complex member BBS1)
E18E (p.Glu18Glu) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E18E (p.Glu18Glu) variant details
- p.Glu18Glu
- rs761128852
- gnomAD 11-66511019-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 9.19
- Most common in the Non-Finnish European population (allele frequency 0.00016)
- Structural context available
- Literature evidence available