E71E (p.Glu71Glu) variant of CRX (Cone-rod homeobox protein)
E71E (p.Glu71Glu) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E71E (p.Glu71Glu) variant details
- p.Glu71Glu
- rs185420673
- gnomAD 19-47836355-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 7.67
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available