E53E (p.Glu53Glu) variant of CRX (Cone-rod homeobox protein)
E53E (p.Glu53Glu) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E53E (p.Glu53Glu) variant details
- p.Glu53Glu
- rs767773596
- gnomAD 19-47836301-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 9.09
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.17
- Literature evidence available