I48I (p.Ile48Ile) variant of RHO (Rhodopsin)
I48I (p.Ile48Ile) in RHO (Rhodopsin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
I48I (p.Ile48Ile) variant details
- p.Ile48Ile
- gnomAD 3-129528877-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 3.90
- Population evidence available
- Structural context available
- Literature evidence available