Y4H (p.Tyr4His) variant of CRX (Cone-rod homeobox protein)
Y4H (p.Tyr4His) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y4H (p.Tyr4His) variant details
- p.Tyr4His
- ESP rs150122798
- ExAC rs150122798
- TOPMed rs150122798
- gnomAD rs150122798
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.74
- CADD 26.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- CRX Homeobox domain domainome 1.0: score 0.0133