E25D (p.Glu25Asp) variant of RHO (Rhodopsin)
E25D (p.Glu25Asp) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E25D (p.Glu25Asp) variant details
- p.Glu25Asp
- ExAC rs748211662
- TOPMed rs748211662
- gnomAD rs748211662
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.11
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available