A2A (p.Ala2Ala) variant of BBS1 (BBSome complex member BBS1)
A2A (p.Ala2Ala) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs143592479
- gnomAD 11-66510665-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0882
- CADD 1.06
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available
- Literature evidence available