Q28* (p.Gln28Ter) variant of RHO (Rhodopsin)
Q28* (p.Gln28Ter) in RHO (Rhodopsin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q28* (p.Gln28Ter) variant details
- p.Gln28Ter
- gnomAD 3-129528815-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available