R164* (p.Arg164Ter) variant of EYS (Protein eyes shut homolog)
R164* (p.Arg164Ter) 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 0.31 / 1. The record also includes population frequency data and published literature.
R164* (p.Arg164Ter) variant details
- p.Arg164Ter
- rs794727631
- ClinGen CA275249
- NCI-TCGA Cosmic COSV6098
- cosmic curated COSV60981
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)