L16* (p.Leu16Ter) variant of CRX (Cone-rod homeobox protein)
L16* (p.Leu16Ter) in CRX (Cone-rod homeobox protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L16* (p.Leu16Ter) variant details
- p.Leu16Ter
- gnomAD 19-47834490-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 38.00
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score 0.583
- Literature evidence available