A3A (p.Ala3Ala) variant of BBS1 (BBSome complex member BBS1)
A3A (p.Ala3Ala) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs1197381505
- gnomAD 11-66510668-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.61
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available