T44I (p.Thr44Ile) variant of CRX (Cone-rod homeobox protein)
T44I (p.Thr44Ile) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T44I (p.Thr44Ile) variant details
- p.Thr44Ile
- ExAC rs760519102
- TOPMed rs760519102
- gnomAD rs760519102
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.96
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.0349