T47I (p.Thr47Ile) variant of CRX (Cone-rod homeobox protein)
T47I (p.Thr47Ile) 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 Inborn genetic diseases; Leber congenital amaurosis 7; Cone-rod dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- rs1203670123
- ClinGen CA406629500
- ClinVar RCV001972092
- ClinVar RCV003264299
- Uncertain significance
- Inborn genetic diseases; Leber congenital amaurosis 7; Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.96
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Leber congenital amaurosis 7; Cone-rod)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.611
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)