p.His27 Ala29del variant of CRX (Cone-rod homeobox protein)
p.His27 Ala29del in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.His27 Ala29del variant details
- gnomAD 19-47834521-GCACC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 18.70
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.0341
- Literature evidence available