H47Y (p.His47Tyr) variant of BBS1 (BBSome complex member BBS1)
H47Y (p.His47Tyr) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
H47Y (p.His47Tyr) variant details
- p.His47Tyr
- gnomAD 11-66511219-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.53
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available