S74R (p.Ser74Arg) variant of TGM1 (P22735)
S74R (p.Ser74Arg) in TGM1 (P22735) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S74R (p.Ser74Arg) variant details
- p.Ser74Arg
- 1000Genomes rs565811853
- ExAC rs565811853
- TOPMed rs565811853
- gnomAD rs565811853
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.23
- CADD 5.85
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available