Y60* (p.Tyr60Ter) variant of RHO (Rhodopsin)
Y60* (p.Tyr60Ter) in RHO (Rhodopsin) 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, published literature, and structural context.
Y60* (p.Tyr60Ter) variant details
- p.Tyr60Ter
- rs527236101
- ClinGen CA354496086
- ClinVar RCV001382599
- TOPMed rs527236101
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)