R37T (p.Arg37Thr) variant of CRX (Cone-rod homeobox protein)
R37T (p.Arg37Thr) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R37T (p.Arg37Thr) variant details
- p.Arg37Thr
- gnomAD rs1968116056
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.78
- CADD 25.30
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.534