L43G (p.Leu43Gly) variant of BBS1 (BBSome complex member BBS1)
L43G (p.Leu43Gly) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L43G (p.Leu43Gly) variant details
- p.Leu43Gly
- gnomAD 11-66511089-G-GCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 30.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available