V151A (p.Val151Ala) variant of EYS (Protein eyes shut homolog)
V151A (p.Val151Ala) 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 0.33 / 1. The record also includes population frequency data.
V151A (p.Val151Ala) variant details
- p.Val151Ala
- NCI-TCGA TCGA novel
- gnomAD rs1766192087
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.29
- CADD 22.50
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available