Q64E (p.Gln64Glu) variant of CEP290 (Centrosomal protein of 290 kDa)
Q64E (p.Gln64Glu) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q64E (p.Gln64Glu) variant details
- p.Gln64Glu
- rs1166981120
- NCI-TCGA Cosmic COSV9989
- cosmic curated COSV99898
- gnomAD rs1166981120
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.23
- CADD 20.20
- PolyPhen-2 0.34
- SIFT 0.45
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available