Q203* (p.Gln203Ter) variant of EYS (Protein eyes shut homolog)
Q203* (p.Gln203Ter) 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 0.45 / 1. The record also includes population frequency data and published literature.
Q203* (p.Gln203Ter) variant details
- p.Gln203Ter
- rs1766182274
- ClinGen CA364789540
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)