D86N (p.Asp86Asn) variant of EYS (Protein eyes shut homolog)
D86N (p.Asp86Asn) 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.
D86N (p.Asp86Asn) variant details
- p.Asp86Asn
- rs768578089
- cosmic curated COSV10647
- ExAC rs768578089
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.32
- CADD 22.90
- PolyPhen-2 0.81
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available