E72K (p.Glu72Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
E72K (p.Glu72Lys) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E72K (p.Glu72Lys) variant details
- p.Glu72Lys
- NCI-TCGA Cosmic COSV5712
- TOPMed rs1292246271
- gnomAD rs1292246271
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.28
- CADD 25.10
- PolyPhen-2 0.79
- SIFT 0.07
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available