E80K (p.Glu80Lys) variant of CRX (Cone-rod homeobox protein)
E80K (p.Glu80Lys) 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 Leber congenital amaurosis 7; Cone-rod dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
E80K (p.Glu80Lys) variant details
- p.Glu80Lys
- rs62654391
- ClinGen CA227617
- ClinVar RCV000085994
- ClinVar RCV001003002
- Pathogenic
- Leber congenital amaurosis 7; Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Leber congenital amaurosis 7; Cone-rod dystrophy 2)
- EBI: Pathogenic (in CORD2)
- UniProt: Pathogenic (in CORD2)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)