L41L (p.Leu41Leu) variant of BBS1 (BBSome complex member BBS1)
L41L (p.Leu41Leu) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L41L (p.Leu41Leu) variant details
- p.Leu41Leu
- rs912081756
- gnomAD 11-66511088-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 18.80
- Population evidence available
- Structural context available
- Literature evidence available