Y10* (p.Tyr10Ter) variant of RHO (Rhodopsin)
Y10* (p.Tyr10Ter) in RHO (Rhodopsin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Y10* (p.Tyr10Ter) variant details
- p.Tyr10Ter
- 1000Genomes rs138142023
- ESP rs138142023
- ExAC rs138142023
- TOPMed rs138142023
- Benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available