G70D (p.Gly70Asp) variant of EYS (Protein eyes shut homolog)
G70D (p.Gly70Asp) in EYS (Protein eyes shut homolog) 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 0.21 / 1. The record also includes population frequency data.
G70D (p.Gly70Asp) variant details
- p.Gly70Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.18
- CADD 0.50
- PolyPhen-2 0.01
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available