I87F (p.Ile87Phe) variant of EYS (Protein eyes shut homolog)
I87F (p.Ile87Phe) 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 0.25 / 1. The record also includes population frequency data.
I87F (p.Ile87Phe) variant details
- p.Ile87Phe
- rs780162766
- NCI-TCGA Cosmic COSV6098
- cosmic curated COSV60984
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.28
- CADD 9.89
- PolyPhen-2 0.39
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available