W32* (p.Trp32Ter) variant of EYS (Protein eyes shut homolog)
W32* (p.Trp32Ter) 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 0.41 / 1. The record also includes population frequency data and published literature.
W32* (p.Trp32Ter) variant details
- p.Trp32Ter
- rs2533030462
- ClinGen CA364790666
- ClinVar RCV003468007
- ClinVar RCV005100152
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)