E55E (p.Glu55Glu) variant of CRX (Cone-rod homeobox protein)
E55E (p.Glu55Glu) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E55E (p.Glu55Glu) variant details
- p.Glu55Glu
- rs1968117124
- gnomAD 19-47836307-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 7.80
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.166
- Literature evidence available