P33P (p.Pro33Pro) variant of CRX (Cone-rod homeobox protein)
P33P (p.Pro33Pro) in CRX (Cone-rod homeobox protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P33P (p.Pro33Pro) variant details
- p.Pro33Pro
- rs770311577
- gnomAD 19-47834542-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0849
- CADD 0.60
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -1.06
- Literature evidence available