E71K (p.Glu71Lys) variant of CRX (Cone-rod homeobox protein)
E71K (p.Glu71Lys) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis 7; Cone-rod dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E71K (p.Glu71Lys) variant details
- p.Glu71Lys
- rs1206525536
- ClinGen CA406629740
- cosmic curated COSV10728
- ClinVar RCV002637767
- Uncertain significance
- Leber congenital amaurosis 7; Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.78
- CADD 28.40
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (Leber congenital amaurosis 7; Cone-rod dystrophy 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)