A56T (p.Ala56Thr) variant of CRX (Cone-rod homeobox protein)
A56T (p.Ala56Thr) 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 Leber congenital amaurosis 7; Cone-rod dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- rs61748437
- ClinGen CA227612
- ClinVar RCV000085991
- ClinVar RCV001369855
- Conflicting interpretations
- Leber congenital amaurosis 7; Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.72
- CADD 23.50
- PolyPhen-2 0.79
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Leber congenital amaurosis 7; Cone-rod dystrophy 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.325
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)