P33H (p.Pro33His) variant of CRX (Cone-rod homeobox protein)
P33H (p.Pro33His) in CRX (Cone-rod homeobox protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P33H (p.Pro33His) variant details
- p.Pro33His
- gnomAD 19-47834540-C-CAT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 29.50
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -1.06
- Literature evidence available