L24F (p.Leu24Phe) variant of BBS1 (BBSome complex member BBS1)
L24F (p.Leu24Phe) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L24F (p.Leu24Phe) variant details
- p.Leu24Phe
- rs1855932012
- gnomAD 11-66511034-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 29.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available