Y30* (p.Tyr30Ter) variant of RHO (Rhodopsin)
Y30* (p.Tyr30Ter) in RHO (Rhodopsin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Y30* (p.Tyr30Ter) variant details
- p.Tyr30Ter
- TOPMed rs1245030121
- gnomAD rs1245030121
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 36.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available