A15P (p.Ala15Pro) variant of CRX (Cone-rod homeobox protein)
A15P (p.Ala15Pro) 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 Retinal dystrophy; Cone-rod dystrophy 2; Leber congenital amaurosis 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A15P (p.Ala15Pro) variant details
- p.Ala15Pro
- rs559181643
- ClinGen CA406628824
- ClinVar RCV001075819
- ClinVar RCV002554773
- Uncertain significance
- Retinal dystrophy; Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.29
- CADD 20.90
- PolyPhen-2 0.08
- SIFT 0.01
- ClinVar: Uncertain significance (Retinal dystrophy; Cone-rod dystrophy 2; Leber congenital amauro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)