G77E (p.Gly77Glu) variant of CEP290 (Centrosomal protein of 290 kDa)
G77E (p.Gly77Glu) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G77E (p.Gly77Glu) variant details
- p.Gly77Glu
- TOPMed rs1437952702
- gnomAD rs1437952702
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.38
- CADD 23.80
- PolyPhen-2 0.97
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available