E25A (p.Glu25Ala) variant of RHO (Rhodopsin)
E25A (p.Glu25Ala) 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.
E25A (p.Glu25Ala) variant details
- p.Glu25Ala
- gnomAD 3-129528807-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.41
- CADD 26.00
- PolyPhen-2 0.51
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available