L46L (p.Leu46Leu) variant of BBS1 (BBSome complex member BBS1)
L46L (p.Leu46Leu) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L46L (p.Leu46Leu) variant details
- p.Leu46Leu
- rs1590754166
- gnomAD 11-66511218-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 13.30
- Population evidence available
- Structural context available
- Literature evidence available