A29T (p.Ala29Thr) variant of CRX (Cone-rod homeobox protein)
A29T (p.Ala29Thr) 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 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- rs2514250194
- ClinGen CA406629091
- ClinVar RCV003079373
- Uncertain significance
- Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.27
- CADD 17.80
- PolyPhen-2 0.03
- SIFT 0.27
- ClinVar: Uncertain significance (Cone-rod dystrophy 2; Leber congenital amaurosis 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.265
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)