I48M (p.Ile48Met) variant of RHO (Rhodopsin)
I48M (p.Ile48Met) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I48M (p.Ile48Met) variant details
- p.Ile48Met
- gnomAD 3-129528877-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.32
- CADD 16.20
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available