E53G (p.Glu53Gly) variant of CRX (Cone-rod homeobox protein)
E53G (p.Glu53Gly) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E53G (p.Glu53Gly) variant details
- p.Glu53Gly
- TOPMed rs967929101
- gnomAD rs967929101
- Likely pathogenic
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.62
- CADD 31.00
- PolyPhen-2 0.53
- SIFT 0.03
- ClinVar: Likely pathogenic (Retinal dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.17