G250* (p.Gly250Ter) variant of EYS (Protein eyes shut homolog)
G250* (p.Gly250Ter) in EYS (Protein eyes shut homolog) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
G250* (p.Gly250Ter) variant details
- p.Gly250Ter
- rs2533027083
- ClinGen CA364789222
- ClinVar RCV003016840
- NCI-TCGA TCGA novel
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 48.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available