Y30Y (p.Tyr30Tyr) variant of RHO (Rhodopsin)
Y30Y (p.Tyr30Tyr) in RHO (Rhodopsin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Y30Y (p.Tyr30Tyr) variant details
- p.Tyr30Tyr
- rs1245030121
- gnomAD 3-129528823-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 8.81
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available