P7L (p.Pro7Leu) variant of CRX (Cone-rod homeobox protein)
P7L (p.Pro7Leu) 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 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- rs558522333
- ClinGen CA9544364
- ClinVar RCV001990192
- ClinVar RCV004816816
- Uncertain significance
- Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.46
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.03
- 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 0.00019)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.535
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)