D109G (p.Asp109Gly) variant of CEP290 (Centrosomal protein of 290 kDa)
D109G (p.Asp109Gly) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
D109G (p.Asp109Gly) variant details
- p.Asp109Gly
- NCI-TCGA Cosmic COSV5835
- cosmic curated COSV58351
- TOPMed rs2040374381
- gnomAD rs2040374381
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.51
- CADD 27.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available