N55D (p.Asn55Asp) variant of RHO (Rhodopsin)
N55D (p.Asn55Asp) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
N55D (p.Asn55Asp) variant details
- p.Asn55Asp
- gnomAD 3-129528896-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.94
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available