Y43Y (p.Tyr43Tyr) variant of RHO (Rhodopsin)
Y43Y (p.Tyr43Tyr) in RHO (Rhodopsin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Y43Y (p.Tyr43Tyr) variant details
- p.Tyr43Tyr
- gnomAD 3-129528862-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 8.65
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available