S7I (p.Ser7Ile) variant of BBS1 (BBSome complex member BBS1)
S7I (p.Ser7Ile) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S7I (p.Ser7Ile) variant details
- p.Ser7Ile
- rs1166022838
- gnomAD 11-66510675-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 19.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available