A19A (p.Ala19Ala) variant of BBS1 (BBSome complex member BBS1)
A19A (p.Ala19Ala) 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.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- gnomAD 11-66511022-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 14.70
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available