Q36K (p.Gln36Lys) variant of RHO (Rhodopsin)
Q36K (p.Gln36Lys) in RHO (Rhodopsin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q36K (p.Gln36Lys) variant details
- p.Gln36Lys
- ExAC rs760515764
- gnomAD rs760515764
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.06
- AlphaMissense 0.23
- MetaLR 0.05
- MetaSVM -1.05
- CADD 17.60
- PolyPhen-2 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available