T61I (p.Thr61Ile) variant of CRX (Cone-rod homeobox protein)
T61I (p.Thr61Ile) 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 Cone-rod dystrophy 2; Leber congenital amaurosis 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T61I (p.Thr61Ile) variant details
- p.Thr61Ile
- rs1599985527
- ClinGen CA406629648
- ClinVar RCV002033569
- TOPMed rs1599985527
- Uncertain significance
- Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.92
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cone-rod dystrophy 2; Leber congenital amaurosis 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)