Q36* (p.Gln36Ter) variant of RHO (Rhodopsin)
Q36* (p.Gln36Ter) in RHO (Rhodopsin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
Q36* (p.Gln36Ter) variant details
- p.Gln36Ter
- rs760515764
- ClinGen CA354495749
- ClinVar RCV002000157
- ExAC rs760515764
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.274
- AlphaMissense 0.23
- MetaLR 0.05
- MetaSVM -1.05
- PolyPhen-2 0.00
- SIFT 0.44
- EVE 0.08
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available