E42D (p.Glu42Asp) variant of CRX (Cone-rod homeobox protein)
E42D (p.Glu42Asp) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LCA7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E42D (p.Glu42Asp) variant details
- p.Glu42Asp
- ExAC rs759088105
- gnomAD rs759088105
- Uncertain significance
- in LCA7
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.57
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.01
- EBI: uncertain significance (in LCA7)
- UniProt: Uncertain significance (in LCA7)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.261