F37F (p.Phe37Phe) variant of BBS1 (BBSome complex member BBS1)
F37F (p.Phe37Phe) 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.
F37F (p.Phe37Phe) variant details
- p.Phe37Phe
- rs370608923
- gnomAD 11-66511076-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available