A32A (p.Ala32Ala) variant of BBS1 (BBSome complex member BBS1)
A32A (p.Ala32Ala) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A32A (p.Ala32Ala) variant details
- p.Ala32Ala
- rs776061360
- gnomAD 11-66511061-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 14.90
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- Literature evidence available