Y32* (p.Tyr32Ter) variant of CRX (Cone-rod homeobox protein)
Y32* (p.Tyr32Ter) in CRX (Cone-rod homeobox protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y32* (p.Tyr32Ter) variant details
- p.Tyr32Ter
- gnomAD 19-47834539-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 36.00
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.681
- Literature evidence available