G3D (p.Gly3Asp) variant of RHO (Rhodopsin)
G3D (p.Gly3Asp) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
G3D (p.Gly3Asp) variant details
- p.Gly3Asp
- rs972605266
- ClinGen CA82646516
- ClinVar RCV001994148
- gnomAD rs972605266
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.61
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.78
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available