E42E (p.Glu42Glu) variant of CRX (Cone-rod homeobox protein)
E42E (p.Glu42Glu) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E42E (p.Glu42Glu) variant details
- p.Glu42Glu
- rs759088105
- gnomAD 19-47836268-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 6.70
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.261
- Literature evidence available