A2A (p.Ala2Ala) variant of BBS4 (BBSome complex member BBS4)
A2A (p.Ala2Ala) in BBS4 (BBSome complex member BBS4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs954863260
- gnomAD 15-72686233-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.74
- Population evidence available
- Structural context available
- Literature evidence available