A11A (p.Ala11Ala) variant of BBS1 (BBSome complex member BBS1)
A11A (p.Ala11Ala) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A11A (p.Ala11Ala) variant details
- p.Ala11Ala
- rs1336755113
- gnomAD 11-66510692-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 12.90
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available