D45H (p.Asp45His) variant of BBS1 (BBSome complex member BBS1)
D45H (p.Asp45His) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D45H (p.Asp45His) variant details
- p.Asp45His
- gnomAD 11-66511213-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.95
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available