Y32H (p.Tyr32His) variant of CRX (Cone-rod homeobox protein)
Y32H (p.Tyr32His) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y32H (p.Tyr32His) variant details
- p.Tyr32His
- gnomAD 19-47834537-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.70
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.681
- Literature evidence available