A7A (p.Ala7Ala) variant of BBS4 (BBSome complex member BBS4)
A7A (p.Ala7Ala) in BBS4 (BBSome complex member BBS4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A7A (p.Ala7Ala) variant details
- p.Ala7Ala
- gnomAD 15-72686248-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.73
- Population evidence available
- Structural context available
- Literature evidence available