E55G (p.Glu55Gly) variant of CRX (Cone-rod homeobox protein)
E55G (p.Glu55Gly) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E55G (p.Glu55Gly) variant details
- p.Glu55Gly
- gnomAD rs1452594516
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.166