H27H (p.His27His) variant of BBS1 (BBSome complex member BBS1)
H27H (p.His27His) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
H27H (p.His27His) variant details
- p.His27His
- rs1461414063
- gnomAD 11-66511046-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 11.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available