I34I (p.Ile34Ile) variant of BBS1 (BBSome complex member BBS1)
I34I (p.Ile34Ile) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I34I (p.Ile34Ile) variant details
- p.Ile34Ile
- rs760081811
- gnomAD 11-66511067-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 15.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available