R78Q (p.Arg78Gln) variant of TGM1 (P22735)
R78Q (p.Arg78Gln) in TGM1 (P22735) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R78Q (p.Arg78Gln) variant details
- p.Arg78Gln
- rs775030916
- ExAC rs775030916
- TOPMed rs775030916
- gnomAD rs775030916
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.19
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available