H47H (p.His47His) variant of BBS1 (BBSome complex member BBS1)
H47H (p.His47His) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
H47H (p.His47His) variant details
- p.His47His
- gnomAD 11-66511221-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.14
- Population evidence available
- Structural context available
- Literature evidence available