A216V (p.Ala216Val) variant of EYS (Protein eyes shut homolog)
A216V (p.Ala216Val) 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 0.16 / 1. The record also includes population frequency data.
A216V (p.Ala216Val) variant details
- p.Ala216Val
- rs780733593
- ExAC rs780733593
- TOPMed rs780733593
- gnomAD rs780733593
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.19
- CADD 8.60
- PolyPhen-2 0.01
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available