E80A (p.Glu80Ala) variant of CRX (Cone-rod homeobox protein)
E80A (p.Glu80Ala) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cone-rod dystrophy 2; Leber congenital amaurosis 7; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
E80A (p.Glu80Ala) variant details
- p.Glu80Ala
- rs104894671
- ClinGen CA118789
- ClinVar RCV000007841
- ClinVar RCV000085995
- Pathogenic
- Cone-rod dystrophy 2; Leber congenital amaurosis 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.15
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Cone-rod dystrophy 2; Leber congenital amaurosis 7; not provided)
- EBI: Pathogenic (in CORD2)
- UniProt: Pathogenic (in CORD2)
- Structural context available
- Cited in: Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of… (PMID 9390563)
- Cited in: A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. (PMID 9792858)