F52Y (p.Phe52Tyr) variant of RHO (Rhodopsin)
F52Y (p.Phe52Tyr) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
F52Y (p.Phe52Tyr) variant details
- p.Phe52Tyr
- gnomAD 3-129528888-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.42
- CADD 23.80
- PolyPhen-2 0.12
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available