N2D (p.Asn2Asp) variant of RHO (Rhodopsin)
N2D (p.Asn2Asp) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
N2D (p.Asn2Asp) variant details
- p.Asn2Asp
- gnomAD 3-129528737-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.76
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available