Y26C (p.Tyr26Cys) variant of RHO (Rhodopsin)
Y26C (p.Tyr26Cys) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y26C (p.Tyr26Cys) variant details
- p.Tyr26Cys
- gnomAD rs1309373132
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.73
- CADD 18.10
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available