D67G (p.Asp67Gly) variant of EYS (Protein eyes shut homolog)
D67G (p.Asp67Gly) in EYS (Protein eyes shut homolog) 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 0.15 / 1. The record also includes population frequency data.
D67G (p.Asp67Gly) variant details
- p.Asp67Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.21
- CADD 2.88
- PolyPhen-2 0.00
- SIFT 0.30
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available