Q39* (p.Gln39Ter) variant of CRX (Cone-rod homeobox protein)
Q39* (p.Gln39Ter) in CRX (Cone-rod homeobox protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q39* (p.Gln39Ter) variant details
- p.Gln39Ter
- gnomAD 19-47836257-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 43.00
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.875
- Literature evidence available