E42K (p.Glu42Lys) variant of CRX (Cone-rod homeobox protein)
E42K (p.Glu42Lys) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cone-rod dystrophy 2; Leber congenital amaurosis 7; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes experimental measurements, published literature, and structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- rs863224863
- ClinGen CA278974
- NCI-TCGA Cosmic COSV5575
- cosmic curated COSV55759
- Conflicting interpretations
- Cone-rod dystrophy 2; Leber congenital amaurosis 7; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.98
- MetaLR 0.82
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Conflicting classifications of pathogenicity (Cone-rod dystrophy 2; Leber congenital amaurosis 7; Retinal dyst)
- EBI: Pathogenic (in LCA7)
- UniProt: Pathogenic (in LCA7)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.261
- Cited in: Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. (PMID 21602930)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)