L54A (p.Leu54Ala) variant of BBS1 (BBSome complex member BBS1)
L54A (p.Leu54Ala) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L54A (p.Leu54Ala) variant details
- p.Leu54Ala
- rs1313590454
- gnomAD 11-66511236-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available