A44A (p.Ala44Ala) variant of BBS1 (BBSome complex member BBS1)
A44A (p.Ala44Ala) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A44A (p.Ala44Ala) variant details
- p.Ala44Ala
- rs2134765700
- gnomAD 11-66511212-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.60
- Population evidence available
- Structural context available
- Literature evidence available