E42Q (p.Glu42Gln) variant of CRX (Cone-rod homeobox protein)
E42Q (p.Glu42Gln) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E42Q (p.Glu42Gln) variant details
- p.Glu42Gln
- rs1968161064
- gnomAD 19-47839337-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 9.87
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.261
- Literature evidence available