R48P (p.Arg48Pro) variant of CRX (Cone-rod homeobox protein)
R48P (p.Arg48Pro) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R48P (p.Arg48Pro) variant details
- p.Arg48Pro
- ExAC rs765302774
- TOPMed rs765302774
- gnomAD rs765302774
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.79
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.0997