R37Q (p.Arg37Gln) variant of CRX (Cone-rod homeobox protein)
R37Q (p.Arg37Gln) in CRX (Cone-rod homeobox protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- gnomAD 19-47836245-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 23.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.534
- Literature evidence available