H47M (p.His47Met) variant of BBS1 (BBSome complex member BBS1)
H47M (p.His47Met) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
H47M (p.His47Met) variant details
- p.His47Met
- gnomAD 11-66511218-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available