A15T (p.Ala15Thr) variant of CRX (Cone-rod homeobox protein)
A15T (p.Ala15Thr) 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 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- rs559181643
- ClinGen CA9544376
- NCI-TCGA Cosmic COSV5575
- cosmic curated COSV55759
- Uncertain significance
- Leber congenital amaurosis 7; Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.25
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Leber congenital amaurosis 7; Cone-rod dystrophy 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.774
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)