G49D (p.Gly49Asp) variant of TGM1 (P22735)
G49D (p.Gly49Asp) 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 0.33 / 1. The record also includes population frequency data and structural context.
G49D (p.Gly49Asp) variant details
- p.Gly49Asp
- rs1169342293
- TOPMed rs1169342293
- gnomAD rs1169342293
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.34
- CADD 14.90
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available