H50D (p.His50Asp) variant of CEP290 (Centrosomal protein of 290 kDa)
H50D (p.His50Asp) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
H50D (p.His50Asp) variant details
- p.His50Asp
- TOPMed rs878853363
- gnomAD rs878853363
- Uncertain significance
- Leber congenital amaurosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.38
- CADD 24.20
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (Leber congenital amaurosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available