Y11C (p.Tyr11Cys) variant of CRX (Cone-rod homeobox protein)
Y11C (p.Tyr11Cys) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y11C (p.Tyr11Cys) variant details
- p.Tyr11Cys
- gnomAD 19-47834475-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.80
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.233
- Literature evidence available